AND-4
|
Integrative
|
Lentivirus
|
Fibroblasts
|
No
|
No
|
M
|
47, XY,+1,+5,-17
|
Unknown
|
No
|
|
BACM
|
Granada
|
PDF
|
Anexo
|
iPS SCU CD34+ #2
|
Integrative
|
Lentivirus
|
CD34+ cord blood
|
No
|
No
|
M
|
46,XY
|
Unknown
|
No
|
|
BACM
|
Granada
|
PDF
|
Anexo
|
iPS SCU CD34+ #1
|
Integrative
|
Lentivirus
|
CD34+ cord blood
|
No
|
No
|
M
|
46,XY
|
Unknown
|
No
|
|
BACM
|
Granada
|
PDF
|
Anexo
|
MSUH-001
|
Integrative
|
Lentivirus
|
Fetal fibroblasts
|
No
|
No
|
F
|
46, XX
|
16w fetus
|
No
|
|
BACM-U.Michigan
|
Granada
|
PDF
|
Anexo
|
iPS0924#6
|
Integrative
|
Retrovirus
|
Fibroblasts
|
Limb Girdle Muscular Dystrophy type 2A
|
Gene LGMD2A, CAPN3 exon 22 AG-TCATCT/intron 14 1782+1072 G>C
|
F
|
46, XX
|
Unknown
|
No
|
|
Biodonostia-IBEC
|
Barcelona
|
PDF
|
|
iPS0826#6
|
Integrative
|
Retrovirus
|
Fibroblasts
|
Limb Girdle Muscular Dystrophy type 2A
|
Gene LGMD2A, CAPN3 exon 22 AG-TCATCT/intron 14 1782+1072 G>C
|
F
|
46, XX
|
Unknown
|
No
|
|
Biodonostia-IBEC
|
Barcelona
|
PDF
|
|
iPS0989#2f
|
Integrative
|
Retrovirus
|
Fibroblasts
|
Limb Girdle Muscular Dystrophy type 2A
|
Gene LGMD2A, CAPN3 exon 22 AG-TCATCT homozygous
|
F
|
46, XX
|
Unknown
|
No
|
|
Biodonostia-IBEC
|
Barcelona
|
PDF
|
|
CD34 iPS1-Sv4F-B8
|
Non Integrative
|
Sendai virus
|
CD34+ from cord blood
|
No
|
No
|
M
|
46, XY
|
0
|
No
|
|
BST. Barcelona
|
Barcelona
|
PDF
|
Anexo
|
Hz 30-18-3 CBiPS2-Sv4F-D10
|
Non Integrative
|
Sendai virus
|
CD34+ cord blood cells
|
No
|
No
|
M
|
46, XY
|
0
|
No
|
Homozygote for the haplotype 30-18-3
|
BST. Barcelona
|
Barcelona
|
PDF
|
Anexo
|
Hz 3-7-15 CBiPS3-Sv4F-E9
|
Non Integrative
|
Sendai virus
|
CD34+ cord blood cells
|
No
|
No
|
M
|
46,XY
|
0 years
|
No
|
Cord blood cells homozygote for the haplotype 3-7-15
|
BST. Barcelona
|
Barcelona
|
PDF
|
Anexo
|
Hz 1-8-3 CBiPS4-Sv4F-F6
|
Non Integrative
|
Sendai virus
|
CD34+ cord blood cells
|
No
|
No
|
F
|
46, XX
|
0
|
No
|
Cord blood cells homozygote for the haplotype 1-8-3
|
BST. Barcelona
|
Barcelona
|
PDF
|
Anexo
|
BST PBiPS3-SV4F-5
|
Non Integrative
|
Sendai virus
|
Periph. blood mononuclear cells
|
No
|
No
|
M
|
46, XY
|
58 years
|
No
|
No
|
BST. Barcelona
|
Barcelona
|
PDF
|
Anexo
|
BST PBiPS4-SV4F-6
|
Non Integrative
|
Sendai virus
|
Periph. blood mononuclear cells
|
No
|
Glycophorin B (S-s-U-) gene deletion in homozygosis
|
M
|
46, XY
|
47 years
|
No
|
No
|
BST. Barcelona
|
Barcelona
|
PDF
|
Anexo
|
BST PBiPS5-Sv4F-15
|
Non Integrative
|
Sendai virus
|
Periph. blood mononuclear cells
|
No
|
Yes, KEL*02N.02.
|
M
|
46, XY
|
84 years
|
No
|
No
|
BST. Barcelona
|
Barcelona
|
PDF
|
Anexo
|
BST PBiPS6-SV4F-9
|
Non Integrative
|
Sendai virus
|
Periph. blood mononuclear cells
|
No
|
Yes, c.836G>A RHAG gen
|
F
|
46, XX
|
38 years
|
No
|
No
|
BST. Barcelona
|
Barcelona
|
PDF
|
Anexo
|
Hz 33-14-1 CBiPS6-Sv4F-H6
|
Non Integrative
|
Sendai virus
|
CD34+ cord blood cells
|
No
|
No
|
F
|
46, XX
|
0
|
No
|
Cord blood homozygote for the haplotype 33-14-1
|
BST. Barcelona
|
Barcelona
|
PDF
|
Anexo
|
Hz 24-7-15 CBiPS7-Sv4F-I12
|
Non Integrative
|
Sendai virus
|
CD34+ cord blood cells
|
No
|
No
|
M
|
46, XY
|
0
|
No
|
Cord blood homozygote for the haplotype 24-7-15
|
BST. Barcelona
|
Barcelona
|
PDF
|
Anexo
|
Hz-11-27-1 CBiPS8-Sv4F-J1
|
Non Integrative
|
Sendai virus
|
CD34+ cord blood cells
|
No
|
No
|
F
|
46, XX
|
0
|
No
|
Cord blood cells homozygote for the haplotype 11-27-1
|
BST. Barcelona
|
Barcelona
|
PDF
|
Anexo
|
cPRPF31-MiPS4F7
|
Non Integrative
|
Sendai virus
|
Perif. blood monon. cells
|
No
|
No
|
M
|
46, XY
|
43
|
No
|
|
CABIMER
|
Granada
|
PDF
|
Anexo
|
PRPF31-MiPS4F3
|
Non Integrative
|
Sendai virus
|
Perif. blood monon. cells
|
Autosomal dominant retinitos pigmentosa
|
PRPF31 c.165G>A
|
F
|
46, XX
|
70
|
No
|
There is a control line for the same study: cPRPF31-MiPS4F7
|
CABIMER
|
Granada
|
PDF
|
Anexo
|
EYS02-MiPS4F7
|
Non Integrative
|
Sendai virus
|
Perif. blood monon. cells
|
Retinitis pigmentosa
|
EYS gene. C.3567delA/c.4829-4832delCATT
|
M
|
46, XY
|
38
|
No
|
|
CABIMER
|
Granada
|
PDF
|
Anexo
|
cAMDdh09-MipS4F17
|
Non Integrative
|
Sendai virus
|
Perif. blood monon. cells
|
No
|
No
|
F
|
46, XX
|
74
|
No
|
|
CABIMER
|
Granada
|
PDF
|
Anexo
|
AMDdh05-MiPS4F16
|
Non Integrative
|
Sendai virus
|
Perif. blood monon. cells
|
Age-related macular degeneration
|
risk variant CFH/p. Y402H
|
F
|
46, XX
|
81
|
No
|
|
CABIMER
|
BACM
|
PDF
|
Anexo
|
cAMDdh01-MiPS4F8
|
Non Integrative
|
Sendai virus
|
Perif. blood monon. cells
|
No
|
No
|
F
|
46, XX
|
75
|
No
|
|
CABIMER
|
Granada
|
PDF
|
Anexo
|
CRB1-MiPS4F1
|
Non Integrative
|
Sendai virus
|
Perif. blood monon. cells
|
Yes, Macular dystrophy
|
Yes, CRB1/c.613_619del and CRB1/c.498_506del
|
m
|
46, XY
|
56 years
|
No
|
|
CABIMER
|
Granada
|
PDF
|
Anexo
|
HLA91-MiPS4F3
|
Non Integrative
|
Sendai virus
|
Peripheral blood monocytes (PBMCs)
|
No
|
No
|
F
|
46, XX
|
30 years
|
No
|
|
CABIMER
|
Granada
|
PDF
|
Anexo
|
HLA98-MiPS4F15
|
Non Integrative
|
Sendai virus
|
Periph. blood mononuclear cells
|
No
|
No
|
M
|
46, XY
|
23 years
|
No
|
|
CABIMER
|
Granada
|
PDF
|
Anexo
|
MMAB35-FiPS4F4
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
Methyl malonic aciduria cblB type
|
Gene MMAB
|
F
|
46,XX
|
4
|
No
|
|
CBM-CSIC-UAM
|
Valencia
|
PDF
|
Anexo
|
MMAB44-FiPS4F11
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
Methyl malonic aciduria cblB type
|
Gene MMAB
|
M
|
46,XY
|
13 months
|
No
|
|
CBM-CSIC-UAM
|
Valencia
|
PDF
|
Anexo
|
PCCA23-FiPS4F6
|
Non Integrative
|
Sendai virus
|
Perif. blood monon. cells
|
Propionic acidemia
|
Mutation in PCCA
|
F
|
46,XX
|
11
|
No
|
|
CBM-CSIC-UAM
|
Valencia
|
PDF
|
Anexo
|
PCCB10-FiPS4F-1
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
Propionic acidemia
|
c.1218_1231del14ins12 (p.G407 fs) mutation in the PCCB gene
|
F
|
46,XX
|
30
|
No
|
|
CBM-CSIC-UAM
|
Valencia
|
PDF
|
Anexo
|
GLDC27-FiPS4F-1
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
Nonketotic Hyperglycinemia
|
Mutations in the GLDC gene: The patient is heterozygous compound for c.1742C > G (p.Pro581Arg) and c.2368C > T (p.Arg790Trp)
|
M
|
46,XY
|
1 month
|
No
|
|
CBM-CSIC-UAM
|
Valencia
|
PDF
|
Anexo
|
PCCB10-FiPS4F-1-genetically corrected
|
Non integrative
|
Sendai virus
|
Fibroblasts
|
Propionic acidemia
|
No
|
F
|
46, XX
|
30
|
Yes
|
Mutation has been corrected by CRISPR / Cas9
|
CBM-CSIC-UAM
|
Valencia
|
PDF
|
Anexo
|
PMM2-CDG FiPS48-Sv4F-7
|
Non Integrative
|
Sendai virus
|
Dermal fibroblasts
|
Yes, PMM2-CDG
|
Yes, IVS7-9T>G/p.T237M in PMM2
|
F
|
46, XY (p10/p13)
|
1 year
|
No
|
|
CBM-CSIC-UAM
|
Valencia
|
PDF
|
Anexo
|
RRMS PBiPS11-Sv4F-7
|
Non Integrative
|
Sendai virus
|
Periph. blood mononuclear cells
|
Relapsing-remitting multiple esclerosis (rapid progression)
|
No
|
F
|
46, XX
|
40 years
|
No
|
|
CEMCAT
|
Barcelona
|
PDF
|
Anexo
|
RRMS PBiPS12-Sv4F-6
|
Non Integrative
|
Sendai virus
|
Periph. blood mononuclear cells
|
Relapsing-remitting multiple esclerosis (slow progression)
|
No
|
F
|
46, XX
|
47 years
|
No
|
|
CEMCAT
|
Barcelona
|
PDF
|
Anexo
|
G15.AO
|
Integrative
|
Retrovirus
|
Adipose derived MSC
|
No
|
No
|
M
|
46, XY
|
Unknown
|
No
|
|
Centro de Investigación Médica Aplicada
|
Barcelona
|
PDF
|
Anexo
|
G15.D
|
Integrative
|
Retrovirus
|
Adipose derived MSC
|
No
|
No
|
M
|
46, XY
|
Unknown
|
No
|
|
Centro de Investigación Médica Aplicada
|
Barcelona
|
PDF
|
Anexo
|
PH1-hFib4F-3.23
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
Primary hyperoxaluria T.1
|
I244T mutation in AGXT gene
|
M
|
46, XY
|
37
|
No
|
|
Centro de Investigación Médica Aplicada
|
Barcelona
|
PDF
|
Anexo
|
PH1-hPBMC4F-2.4
|
Non Integrative
|
Sendai virus
|
Perif. blood monon. cells
|
Primary hyperoxaluria T.1
|
I244T mutation in AGXT gene
|
M
|
46, XY
|
37
|
No
|
|
Centro de Investigación Médica Aplicada
|
Barcelona
|
PDF
|
Anexo
|
ATTR-CM PBiPS1-Sv4F-3
|
Non Integrative
|
Sendai virus
|
Periph. blood mononuclear cells
|
Amyloid Transthyretin Cardiomyopathy
|
P.Ser43Asn
|
F
|
46, XX
|
55 years
|
No
|
|
Centro de Investigación Médica Aplicada
|
Barcelona
|
PDF
|
Anexo
|
OCD FiPS3-Ep6F-6
|
Non Integrative
|
Episomal
|
Fibroblasts
|
Obsessive Compulsive Disorder
|
No
|
M
|
46, XY
|
44
|
No
|
|
CEO - Fundación Canis Majoris
|
Barcelona
|
PDF
|
Anexo
|
hiPSC clone 1
|
Integrative
|
Retrovirus
|
Fibroblasts
|
No
|
Unknown
|
F
|
46,XX
|
Adult
|
No
|
|
CIPF
|
Valencia
|
PDF
|
|
hiPSC clone 4
|
Integrative
|
Retrovirus
|
Fibroblasts
|
No
|
Unknown
|
F
|
46,XX
|
Adult
|
No
|
|
CIPF
|
Valencia
|
PDF
|
|
RP1-FiPS4F1
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
Retinitis Pigmentosa
|
MERTK GENE, C.992_993DelCA (p.Ser331Cysfs*5)
|
M
|
46,XY
|
45
|
No
|
|
CIPF
|
Valencia
|
PDF
|
Anexo
|
Ctrl1-FiPS4F1
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
No
|
Unknown
|
M
|
46,XY
|
41
|
No
|
|
CIPF
|
Valencia
|
PDF
|
Anexo
|
RP2-FiPS4F1
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
Retinitis pigmentosa
|
PRPF8 c.6974_6994del21bp (p.V2325fsX2329)/WT
|
F
|
46,XX
|
42
|
No
|
|
CIPF
|
Valencia
|
PDF
|
Anexo
|
Ctrl2-FiPS5F2
|
Non Integrative
|
mRNA
|
Fibroblasts
|
No
|
Unknown
|
M
|
46,XY
|
4
|
No
|
|
CIPF
|
Valencia
|
PDF
|
Anexo
|
LCA-FiPSC4F1
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
Leber congenital amaurosis
|
c.265 T > C mutation in AIPL1 gene
|
F
|
46,XX
|
31
|
No
|
|
CIPF
|
Valencia
|
PDF
|
Anexo
|
CARS-FiPS4F1
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
No
|
SACSIN gene (SACS): heterozygote c.11374C > T (p.R3792X)
|
F
|
46,XX
|
29
|
No
|
Parent of ARS-FiPS4F1
|
CIPF
|
Valencia
|
PDF
|
Anexo
|
ARS-FiPS4F1
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
|
SACSIN gene: c.9938delC (p.G3313Qfs*11)
and c.11374C > T (p.R3792*) mutation in
compound heterozygosity
|
M
|
46,XY
|
14
|
No
|
|
CIPF
|
Valencia
|
PDF
|
Anexo
|
CTRL3-FiPS4F1
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
No
|
Unknown
|
F
|
46,XX
|
52
|
No
|
Sibling of RP3-FiPS4F1
|
CIPF
|
Valencia
|
PDF
|
Anexo
|
RP3-FiPS4F1
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
Retinitis Pigmentosa
|
Mutation in CERKL gene (c.769 C > T)
|
M
|
46,XY
|
62
|
No
|
|
CIPF
|
Valencia
|
PDF
|
Anexo
|
RP1-FiPS4F1-GC1
|
Non Integrative
|
Sendai virus
|
Dermal fibroblasts
|
Retinitis pigmentaria
|
Yes, corrected
|
M
|
46, XY
|
45 years
|
Yes
|
Genetically corrected mutation c.992_993delCA gene MERTK in one allele of original line RP1-FiPS4F1 (registered as RCPFi003-A)
|
CIPF
|
CIPF
|
PDF
|
Anexo
|
RP1-FiPS4F1-GC2
|
Non Integrative
|
Sendai virus
|
Dermal fibroblasts
|
Retinitis pigmentaria
|
Yes, corrected
|
M
|
46, XY
|
45 years
|
Yes
|
Genetically corrected in 2 alleles to wild type of original line FiPS4F1 (registered as RCPFi003-A) bearing mutation c.992_993delCA of gene MERTK
|
CIPF
|
Centro de Investigación Médica Aplicada
|
PDF
|
Anexo
|
GLC-FiPS4F1
|
Non Integrative
|
Sendai virus
|
Dermal fibroblasts
|
Congenital glaucoma
|
Yes
|
M
|
46, XY
|
38 years
|
No
|
c.1403_1429dup v (p.K468_S476dup) homozygosis of gene CYP1B1
|
CIPF
|
CIPF
|
PDF
|
Anexo
|
PLANFiPS1-Sv4F-1
|
Non Integrative
|
Sendai virus
|
Dermal fibroblasts
|
Yes, PLAN (PLA2G6-associated neurodegeneration)
|
Yes
|
M
|
46, XY
|
5 years
|
No
|
Mutation at c.2356G>A (p.E786K) in homozygosis
|
CIPF
|
Valencia
|
PDF
|
Anexo
|
PLANFiPS2-Sv4F-1
|
Non Integrative
|
Sendai virus
|
Dermal fibroblasts
|
Yes, PLAN (PLA2G6-associated neurodegeneration)
|
Yes
|
F
|
46, XX
|
5 years
|
No
|
Mutation at c.1010T>A (p.L337Q)/c.1027G>A (p.A343T)
|
CIPF
|
Valencia
|
PDF
|
Anexo
|
PLANFiPS3-Sv4F-1
|
Non Integrative
|
Sendai virus
|
Dermal fibroblasts
|
Yes, PLAN (PLA2G6-associated neurodegeneration)
|
Yes
|
M
|
46, XY
|
5 years
|
No
|
Mutation at c.2370T>G (p.Y790*) in homozygosis
|
CIPF
|
Valencia
|
PDF
|
Anexo
|
CBiPS6-2F-4
|
Integrative
|
Retrovirus
|
CD133+ cord blood
|
No
|
No
|
M
|
46, XY
|
0
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
CBiPS30-4F-3
|
Integrative
|
Retrovirus
|
CD133+ cord blood
|
No
|
No
|
M
|
46, XY
|
0
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
CBiPS32-2F-2
|
Integrative
|
Retrovirus
|
CD133+ cord blood
|
No
|
No
|
F
|
46, XX
|
0
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
CBiPS32-3F-10
|
Integrative
|
Retrovirus
|
CD133+ cord blood
|
No
|
No
|
F
|
46, XX
|
0
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
CBiPS32-3F-12
|
Integrative
|
Retrovirus
|
CD133+ cord blood
|
No
|
No
|
F
|
46, XX
|
0
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
[AD]FiPSAG07645-4F-17
|
Integrative
|
Retrovirus
|
Fibroblasts
|
Alzheimer disease
|
Gene PSEN1, A246E
|
F
|
46, XX
|
16
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
[CRTRd]FiPS3067-4F-9
|
Integrative
|
Retrovirus
|
Fibroblasts
|
Creatine Deficiency Syndrome
|
Gene CRTR, c.1631 C>T
|
M
|
46, XY
|
7
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
[CRTRd]FiPS3819-4F-2
|
Integrative
|
Retrovirus
|
Fibroblasts
|
Creatine Deficiency Syndrome
|
Gene CRTR, c.1396 G>A
|
M
|
46, XY
|
8
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
[ctrl.PD]FiPS005-4F-9
|
Integrative
|
Retrovirus
|
Fibroblasts
|
No
|
No
|
F
|
46, XX
|
56
|
No
|
Sibling of [PD]FiPS006-4F-11
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
FiPS-3F-1
|
Integrative
|
Retrovirus
|
Fibroblasts
|
No
|
No
|
M
|
46, XY
|
3
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
[GA]FiPS4F
|
Integrative
|
Retrovirus
|
Fibroblasts
|
Glutaril aciduria dehidrog. defic.
|
Unknown
|
F
|
46, XX
|
16
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
HKiPS4F
|
Integrative
|
Retrovirus
|
Hair keratinocytes
|
No
|
No
|
F
|
46, XX
|
30
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
XF-iPSF44-3F-1
|
Integrative
|
Retrovirus
|
Fibroblasts
|
No
|
No
|
M
|
46, XY
|
3
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
XF-iPSF44-3F-2
|
Integrative
|
Retrovirus
|
Fibroblasts
|
No
|
No
|
M
|
46, XY
|
3
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
cFA404-KiPS4F-1
|
Integrative
|
Retrovirus
|
Keratinocytes
|
Corrected Fanconi anemia
|
No
|
M
|
46, XY
|
Unknown
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
cFA404-KiPS4F-3
|
Integrative
|
Retrovirus
|
Keratinocytes
|
Corrected Fanconi anemia
|
No
|
M
|
46, XY
|
Unknown
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
KiPS3F-7
|
Integrative
|
Retrovirus
|
Keratinocytes
|
No
|
No
|
M
|
46, XY
|
4
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
KiPS4F-1
|
Integrative
|
Retrovirus
|
Keratinocytes
|
No
|
No
|
M
|
46, XY
|
4
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
KiPS4F-8
|
Integrative
|
Retrovirus
|
Keratinocytes
|
No
|
No
|
M
|
46, XY
|
4
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
[PD]FiPS031-4F-1
|
Integrative
|
Retrovirus
|
Fibroblasts
|
Parkinson disease
|
Gene SNCA, A53T
|
M
|
46, XY
|
48
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
[PD]FiPS006-4F-11
|
Integrative
|
Retrovirus
|
Fibroblasts
|
Parkinson disease
|
Gene PINK1, Q456Xhom
|
F
|
46, XX
|
53
|
No
|
Sibling of [ctrl.PD]FiPS005-4F-9
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
[PD] FiPS022-V4F-15
|
Integrative
|
Retrovirus
|
Fibroblasts
|
Parkinson disease
|
Gene LRKK2 G2019S heterozygote with early onset PD (40)
|
M
|
46, XY t(6,12)
|
47
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
[GD]FiPS-4F-21c
|
Integrative
|
Lentivirus
|
Fibroblasts
|
Gaucher disease
|
Gene GBA1, 721 G?A, 1448 T?C
|
F
|
46, XX (inv 12)
|
Unknown
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
[TSD] FiPS-4F-3-1
|
Integrative
|
Retrovirus
|
Fibroblasts
|
Tay-Sachs disease
|
Gene HEXA, heterozygote mutation c.1260G> C, c.1330 +1 G> A
|
M
|
46, XY
|
1
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
FiPS-4F-7
|
Integrative
|
Retrovirus
|
Fibroblasts
|
No
|
No
|
M
|
46, XY
|
3
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
|
FiPS-4F-8
|
Integrative
|
Retrovirus
|
Fibroblasts
|
No
|
No
|
M
|
46, XY
|
3
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
|
FiPS Ctrl1-mR5F-6
|
Non Integrative
|
mRNA
|
Fibroblasts
|
No
|
No
|
M
|
46, XY
|
9
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
FiPS Ctrl1-SV4F-7
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
No
|
No
|
M
|
46, XY
|
9
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
FiPS Ctrl2-Ep6F-8
|
Non Integrative
|
Episomal
|
Fibroblasts
|
No
|
No
|
M
|
46, XY
|
2,5
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
FiPS Ctrl2-mR5F-6
|
Non Integrative
|
mRNA
|
Fibroblasts
|
No
|
No
|
M
|
46, XY
|
2,5
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
FiPS Ctrl2-SV4F-1
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
No
|
No
|
M
|
46, XY, 22ps+, 22ps+
|
2,5
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
[FiPS] Ctrl1-Ep6F-5
|
Non Integrative
|
Episomal
|
Fibroblasts
|
No
|
No
|
M
|
46, XY
|
9
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
CBiPS 4F-10
|
Integrative
|
Retrovirus
|
CD133+ cord blood
|
No
|
No
|
F
|
46, XX
|
0
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
CBiPS 4F-3a
|
Integrative
|
Retrovirus
|
CD133+ cord blood
|
No
|
No
|
F
|
46, XX
|
0
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
CBiPS 2F-1c
|
Integrative
|
Retrovirus
|
CD133+ cord blood
|
No
|
No
|
F
|
46, XX
|
0
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
[UCiPS] Ctrl5-R4F-25
|
Integrative
|
Retrovirus
|
Urine cells
|
No
|
No
|
F
|
46, XX
|
58
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
FiPS Ctrl2-R4F-5
|
Integrative
|
Retrovirus
|
Fibroblasts
|
No
|
No
|
M
|
46, XY
|
2,5
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
[AS] FiPS 1-Ep6F-2
|
Non Integrative
|
Episomal
|
Fibroblasts
|
Alport sindrome
|
Gene COL4A3, c.[345delG]; [345delG], p.[P116Lfs*37], Exon6
|
F
|
46, XX
|
25
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
[AS] FiPS 2-Ep6F-28
|
Non Integrative
|
Episomal
|
Fibroblasts
|
Alport sindrome
|
Gene COL4A5, c3722G>A (G1241D)
|
M
|
46, XY
|
25
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
[AS] FiPS 3-Ep6F-9
|
Non Integrative
|
Episomal
|
Fibroblasts
|
Alport sindrome
|
Gene COL4A5, c4034G>A (G1345D)
|
M
|
46, XY
|
41
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
FiPS Ctrl1-R4F-4
|
Integrative
|
Retrovirus
|
Fibroblasts
|
No
|
No
|
M
|
46, XY
|
9
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
[MS] FiPS1-R4F-3
|
Integrative
|
Retrovirus
|
Fibroblasts
|
Multiple sclerosis
|
TT geNotype of the TNFRSF1A polymorphism rs1800693
|
F
|
46, XX
|
33
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
[MS] FiPS2-R4F-10
|
Integrative
|
Retrovirus
|
Fibroblasts
|
Multiple sclerosis
|
TT geNotype of the TNFRSF1A polymorphism rs1800693
|
M
|
46, XY
|
44
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
[MS] FiPS3-R4F-1
|
Integrative
|
Retrovirus
|
Fibroblasts
|
Multiple sclerosis
|
CC geNotype of the TNFRSF1A polymorphism rs1800693
|
M
|
46, XY
|
41
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
[MS] FiPS4-R4F-1
|
Integrative
|
Retrovirus
|
Fibroblasts
|
Multiple sclerosis
|
CC geNotype of the TNFRSF1A polymorphism rs1800693
|
F
|
46, XX
|
49
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
[MS] FiPS5-R4F-6
|
Integrative
|
Retrovirus
|
Fibroblasts
|
Multiple sclerosis
|
TT geNotype of the TNFRSF1A polymorphism rs1800693
|
F
|
46, XX
|
42
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
[MS] FiPS6-R4F-2
|
Integrative
|
Retrovirus
|
Fibroblasts
|
Multiple sclerosis
|
CC geNotype of the TNFRSF1A polymorphism rs1800693
|
F
|
46, XX
|
49
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
[DUP7]FiPS4-R4F-2
|
Integrative
|
Retrovirus
|
Fibroblasts
|
Autism
|
7q.11.23 duplication
|
F
|
46, XX
|
13
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
[SWB]FiPS1-R4F-5
|
Integrative
|
Retrovirus
|
Fibroblasts
|
Williams-Beuren syndrome
|
7q.11.23 deletion
|
F
|
46, XX
|
15
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
[SWB]FiPS5-R4F-1
|
Integrative
|
Retrovirus
|
Fibroblasts
|
Williams-Beuren syndrome
|
7q.11.23 deletion
|
F
|
46, XX
|
15
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
DUPSW FiPS 501-R4F-2
|
Integrative
|
Retrovirus
|
Fibroblasts
|
Autism
|
7q11.23 duplication
|
M
|
46, XY
|
17
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
DUPSW FiPS701 R4F-6
|
Integrative
|
Retrovirus
|
Fibroblasts
|
Autism
|
7q11.23 duplication
|
M
|
46, XY
|
4
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
SWB FiPS 159-R4F-4
|
Integrative
|
Retrovirus
|
Fibroblasts
|
Williams-Beuren syndrome
|
7q11.23 deletion
|
M
|
46, XY
|
14
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
SWB FiPS 344-R4F-2
|
Integrative
|
Retrovirus
|
Fibroblasts
|
Williams-Beuren syndrome
|
7q11.23 deletion
|
M
|
46, XY
|
7
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
OCD FiPS2-Ep6F-10
|
Non Integrative
|
Episomal
|
Fibroblasts
|
Obssesive compulsive disorder
|
No
|
F
|
46, XX
|
51
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
OCD FiPS1-Ep6F-16
|
Non Integrative
|
Episomal
|
Fibroblasts
|
Obssesive compulsive disorder
|
No
|
F
|
46, XX
|
54
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
CBiPS30-4F-5
|
Integrative
|
Retrovirus
|
CD133+ cord blood
|
No
|
No
|
M
|
46, XY
|
0
|
No
|
|
CMRB
|
Barcelona
|
PDF
|
Anexo
|
LVNC-FiPS-MIB1STOP1
|
Integrative
|
Retrovirus
|
Fibroblasts
|
Left ventricular Non-compaction
|
Gene MIB1, C1587T of exon 1
|
F
|
46,XX
|
38
|
No
|
|
CNIC
|
Valencia
|
PDF
|
Anexo
|
LVNC-FiPS-MIB1VF2
|
Integrative
|
Retrovirus
|
Fibroblasts
|
Left ventricular Non-compaction
|
Gene MIB1, G2827T in exon 20
|
M
|
46,XY
|
52
|
No
|
|
CNIC
|
Valencia
|
PDF
|
Anexo
|
LVNC-FiPS-MIB1Ctrl-WTm6
|
Integrative
|
Retrovirus
|
Fibroblasts
|
No
|
Unknown
|
F
|
46,XX
|
52
|
No
|
|
CNIC
|
Valencia
|
PDF
|
Anexo
|
HDF-iPS-SV10
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
No
|
Unknown
|
F
|
46,XX
|
Unknown
|
No
|
|
CNIC
|
Valencia
|
PDF
|
Anexo
|
CVTTHi001-A
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
APDS2 syndrome
|
c.1425+2delT
|
M
|
46, XY
|
22
|
No
|
|
CTTH-IIS Biocruces
|
Barcelona
|
PDF
|
Anexo
|
RPAB16-FiPS4F3
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
Usher disease
|
Mutation in USH2A gene c.2276G > T; p.Cys759Phe
|
M
|
46,XY
|
Unknown
|
No
|
|
FJD
|
Valencia
|
PDF
|
Anexo
|
DOA2259-FiPS4F-8
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
Dominant Optic Atrophy
|
Mutation in ACO2 gene: c.1999G > A; p.Glu667Lys
|
M
|
46,XY
|
30
|
No
|
|
FJD
|
Valencia
|
PDF
|
Anexo
|
THD FiPS B1 Ep6F-15
|
Non Integrative
|
Episomal
|
Fibroblasts
|
Tyrosine Hydroxylase Deficiency
|
TH Gene c.982C>T; R238W/c.1196 C>T, p.T399M
|
F
|
46,XX
|
15
|
No
|
|
FSJD-CMRB
|
Barcelona
|
PDF
|
Anexo
|
THD FiPS A1 Ep6F-17
|
Non Integrative
|
Episomal
|
Fibroblasts
|
Tyrosine Hydroxylase Deficiency
|
TH Gene c.698G>A, p.R233H/c.698G>A, p.R233H
|
F
|
46,XX
|
8
|
No
|
|
FSJD-CMRB
|
Barcelona
|
PDF
|
Anexo
|
PBMC1-iPS4F1
|
Non Integrative
|
Sendai virus
|
Perif. blood monon. cells
|
No
|
No
|
F
|
46,XX
|
39
|
No
|
|
GENYO
|
Granada
|
PDF
|
Anexo
|
PBMC1-iPS4F1 DLL4
|
Non Integrative
|
Sendai virus
|
Perif. blood monon. cells
|
No
|
No
|
F
|
46,XX,+der(1)t(1;14)(q11;q11),-14
|
39
|
DLL4
|
|
GENYO
|
Granada
|
PDF
|
Anexo
|
PBMC1-iPS4F1 shDLL4
|
Non Integrative
|
Sendai virus
|
Perif. blood monon. cells
|
No
|
No
|
F
|
47,XX +der(1),t(1;?)
|
39
|
shDLL4
|
|
GENYO
|
Granada
|
PDF
|
Anexo
|
PBMC2-iPS4F8 RBM15-MKL1 (Nombre abreviado PBMC2-iPS4F8 RM)
|
Non Integrative
|
Sendai virus
|
Perif. blood monon. cells
|
No
|
No
|
F
|
46,XX
|
45
|
RBM15-MKL1
|
|
GENYO
|
Granada
|
PDF
|
Anexo
|
GRX-MCiPS4F-A2
|
Non Integrative
|
Sendai virus
|
Perif. blood monon. cells
|
No
|
No
|
M
|
46,XY
|
48
|
No
|
|
GENYO
|
Granada
|
PDF
|
Anexo
|
ASD-PBMC1-iPS4F2
|
Non Integrative
|
Sendai virus
|
Perif. blood monon. cells
|
Helsmoortel-Van der Aa syndrome
|
ADNP mutation
|
F
|
46, XX
|
9
|
No
|
|
GENYO
|
Granada
|
PDF
|
Anexo
|
FDP/AML-PBMC-iPSC4F73
|
Non Integrative
|
Sendai virus
|
Perif. blood monon. cells
|
Familial Platelet Disorder with Associated Myeloid Malignancy (FPDMM)
|
Variant p.Thr196Ala in gene RUNX1
|
F
|
46, XX
|
54
|
No
|
|
GENYO
|
Granada
|
PDF
|
Anexo
|
PBMC1-iPS4F1 NEO
|
Non Integrative
|
Sendai virus
|
Periph. blood mononuclear cells
|
No
|
No
|
F
|
46, XX
|
39
|
Yes
|
The cell line has been generated from PBMC1-iPS4F1 by infection with lentivirus expressing Neomicin-resistance gene
|
GENYO
|
Granada
|
PDF
|
Anexo
|
PBMC2-iPS4F8-CBFA2T3-GLIS2
|
Non Integrative
|
Sendai virus
|
Periph. blood mononuclear cells
|
No
|
No
|
F
|
46, XX
|
45
|
Yes
|
The cell line has been generated from PBMC2-iPS4F8 by infection with lentivirus expressing the CBFA2T3-GLIS2 (ETO2-GLIS2) oncogene
|
GENYO
|
Granada
|
PDF
|
|
GRX-MCiPS4F-A2-NEO
|
Non Integrative
|
Sendai virus
|
Periph. blood mononuclear cells
|
No
|
No
|
M
|
46, XY
|
48
|
Yes
|
The cell line has been generated from GRX-MCiPS4F-A2 by infection with lentivirus expressing Neomicin-resistance gene
|
GENYO
|
Granada
|
PDF
|
|
GRX-MCiPS4F-A2-ETO2-GLIS2
|
Non Integrative
|
Sendai virus
|
Periph. blood mononuclear cells
|
No
|
No
|
M
|
46, XY
|
48
|
Yes
|
The cell line has been generated from GRX-MCiPS4F-A2 by infection with lentivirus expressing the ETO2-GLIS2 oncogene
|
GENYO
|
Granada
|
PDF
|
|
PBMC2-iPS4F8
|
Non Integrative
|
Sendai virus
|
Perif. blood monon. cells
|
No
|
No
|
F
|
46,XX
|
45
|
No
|
|
GENYO-IDIVAL
|
Granada
|
PDF
|
Anexo
|
SP02#1
|
Integrative
|
Retrovirus
|
Keratinocytes
|
Parkinson disease
|
No
|
M
|
46, XY
|
55
|
No
|
|
IBEC
|
Barcelona
|
PDF
|
Anexo
|
SP08#1
|
Integrative
|
Retrovirus
|
Keratinocytes
|
Parkinson disease
|
No
|
F
|
46, XX
|
66
|
No
|
|
IBEC
|
Barcelona
|
PDF
|
Anexo
|
SP13#4
|
Integrative
|
Retrovirus
|
Keratinocytes
|
Parkinson disease
|
Carrier of G2019S mutation in the LRRK2 gene
|
F
|
46, XX
|
68
|
No
|
|
IBEC
|
Barcelona
|
PDF
|
Anexo
|
IC-Ctrl2-F-iPS-4F-1
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
No
|
Unknown
|
F
|
46,XX
|
66
|
No
|
|
IC-CSIC/CIBERNED
|
Valencia
|
PDF
|
Anexo
|
IC-Ctrl3-F-iPS-4F-1
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
No
|
Unknown
|
M
|
46,XY
|
72
|
No
|
|
IC-CSIC/CIBERNED
|
Valencia
|
PDF
|
Anexo
|
IC-PD1-F-iPS-4F-1
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
Parkinson disease
|
N370S/wt in GBA1 gene
|
F
|
46,XX
|
67
|
No
|
|
IC-CSIC/CIBERNED
|
Valencia
|
PDF
|
Anexo
|
IC-PD2-F-iPS-4F-1
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
Parkinson disease
|
N370S/wt in GBA1 gene
|
F
|
46,XX
|
75
|
No
|
|
IC-CSIC/CIBERNED
|
Valencia
|
PDF
|
Anexo
|
IC-PD3-F-iPS-4F-1
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
Parkinson disease
|
L444P/wt in GBA1 gene
|
F
|
46,XX
|
74
|
No
|
|
IC-CSIC/CIBERNED
|
Valencia
|
PDF
|
Anexo
|
IC-PD4-F-iPS-4F-1
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
Parkinson disease
|
L444P/wt in GBA1 gene
|
M
|
46,XY
|
52
|
No
|
|
IC-CSIC/CIBERNED
|
Valencia
|
PDF
|
Anexo
|
IC-Ctrl1-F-iPS-4F-1
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
No
|
Unknown
|
M
|
46,XY
|
85
|
No
|
|
IC-CSIC/CIBERNED
|
Valencia
|
PDF
|
Anexo
|
IC-AD2-F-iPS-4F-1
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
Alzheimer disease
|
APOE-epsilon4
|
F
|
46,XX
|
66
|
No
|
|
IC-CSIC/CIBERNED
|
Valencia
|
PDF
|
Anexo
|
IC-AD6-F-iPS-4F-1
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
Alzheimer disease
|
PSEN (Gly206Asp)
|
M
|
46,XY
|
43
|
No
|
|
IC-CSIC/CIBERNED
|
Valencia
|
PDF
|
Anexo
|
IC-AD1-F-iPS-4F-1
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
Alzheimer disease
|
APOE-epsilon4
|
M
|
46,XY
|
74
|
No
|
|
IC-CSIC/CIBERNED
|
Valencia
|
PDF
|
Anexo
|
IC-AD5-F-iPS-4F-1
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
Alzheimer disease
|
Unknown
|
F
|
46,XX
|
79
|
No
|
|
IC-CSIC/CIBERNED
|
Valencia
|
PDF
|
Anexo
|
IC-PD5-F-iPS-4F-1
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
Parkinson disease
|
Mut L444P in GBA in heterozigosis
|
F
|
46,XX
|
76
|
No
|
|
IC-CSIC/CIBERNED
|
Valencia
|
PDF
|
Anexo
|
IC-AD4-F-iPS-4F-1
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
Alzheimer disease
|
Unknown
|
M
|
46,XY
|
79
|
No
|
|
IC-CSIC/CIBERNED
|
Valencia
|
PDF
|
Anexo
|
IC-AD3-F-iPS-4F-1
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
Alzheimer disease
|
Unknown
|
M
|
46,XY
|
79
|
No
|
|
IC-CSIC/CIBERNED
|
Valencia
|
PDF
|
Anexo
|
[IDDM-1] FiPS1.13-Ep6F-9
|
Non Integrative
|
Episomal
|
Fibroblasts
|
Type 1 diabetes
|
No
|
M
|
46, XY
|
38
|
No
|
|
IDIBAPS-CMRB
|
Barcelona
|
PDF
|
Anexo
|
SP11#1
|
Integrative
|
Retrovirus
|
Keratinocytes
|
No
|
No
|
F
|
46, XX
|
48
|
No
|
|
IDIBAPS-IDIBELL
|
Barcelona
|
PDF
|
Anexo
|
CBiPS8-3F-4 GATA2-R396Q-12
|
Integrative
|
Retrovirus
|
CD133+ cord blood cells
|
No
|
No
|
M
|
46, XY
|
0
|
Yes
|
Heterozygous GATA2 mutation R396Q
|
IDIBELL
|
Barcelona
|
PDF
|
Anexo
|
CBiPS8-3F-4 GATA2 R398W-8
|
Integrative
|
Retrovirus
|
CD133+ cord blood cells
|
No
|
No
|
M
|
46, XY
|
0
|
Yes
|
Heterozygous GATA2 mutation R398W
|
IDIBELL
|
Barcelona
|
PDF
|
Anexo
|
CBiPS8-3F-4
|
Integrative
|
Retrovirus
|
CD133+ cord blood cells
|
No
|
No
|
M
|
46, XY
|
0
|
No
|
|
IDIBELL
|
Barcelona
|
PDF
|
Anexo
|
CBiPS8-3F-4 SAMD9 I1567M
|
Integrative
|
Retrovirus
|
CD133+ cord blood
|
No
|
No
|
M
|
46, XY
|
0
|
Yes
|
Heterozygous SAMD9 I1567M mutation Edited form of CBiPS8-3F-4.
|
IDIBELL
|
Barcelona
|
PDF
|
Anexo
|
NEDCASB FiPS319-Ep6F-7
|
Non Integrative
|
Episomal
|
Dermal fibroblasts
|
Yes, neurodevelopmental disorders
|
Yes
|
M
|
46, XY
|
3 years
|
No
|
Mutation at SHMT2 in the original cell, not confirmed in the iPS
|
IDIBELL
|
Barcelona
|
PDF
|
Anexo
|
LD FiPS18338-Ep6F-3
|
Non Integrative
|
Episomal
|
Dermal fibroblasts
|
Yes, leukodystrophy (PI4KA deficiency)
|
Yes
|
M
|
46, XY
|
10 years
|
No
|
Mutation at PI4KA in the original cell, not confirmed in the iPS
|
IDIBELL
|
Barcelona
|
PDF
|
Anexo
|
HLD18 FiPS4379-Ep6F-2
|
Non Integrative
|
Episomal
|
Dermal fibroblasts
|
Yes, Hypomyelinating leukodystrophy type 18
|
Yes
|
F
|
46, XX
|
2 years
|
No
|
Mutation at DEGS1 in the original cell, not confirmed in the iPS
|
IDIBELL
|
Barcelona
|
PDF
|
Anexo
|
ALD FiPS2-Ep6F-11
|
Non Integrative
|
Episomal
|
Dermal fibroblasts
|
Adrenoleukodystrophy
|
ABCD1
|
M
|
46, XY
|
45 years
|
No
|
Mutation in the original cell, not confirmed in the iPS
|
IDIBELL
|
Barcelona
|
PDF
|
Anexo
|
ALD FiPS1-Ep6F-11
|
Non Integrative
|
Episomal
|
Dermal fibroblasts
|
Adrenoleukodystrophy
|
ABCD1
|
M
|
46, XY
|
7 years
|
No
|
Mutation in the original cell, not confirmed in the iPS
|
IDIBELL
|
Barcelona
|
PDF
|
Anexo
|
MYB1#4
|
Non Integrative
|
Sendai virus
|
Dermal fibroblasts
|
Cardiac Hypertrophy
|
MYBPC3 pK600fs
|
M
|
46, XY
|
33 years
|
No
|
|
IDIBELL
|
Barcelona
|
PDF
|
Anexo
|
MYB2#2
|
Non Integrative
|
Sendai virus
|
Dermal fibroblasts
|
No
|
MYBPC3 K600fs
|
F
|
46, XX
|
36 years
|
No
|
|
IDIBELL
|
Barcelona
|
PDF
|
Anexo
|
IDISi001-A
|
Non Integrative
|
Sendai virus
|
Perif. blood monon. cells
|
CADASIL
|
Arg 1242Cys/Normal Exon 23 NoTCH3. 19p13.12
|
M
|
46,XY
|
67
|
No
|
|
IDIS
|
Granada
|
PDF
|
Anexo
|
6PNF SiPSrv_PM_2
|
Integrative
|
Retrovirus
|
Plexiform neurofibroma (Schawnn cells)
|
Neurofibromatosis Type 1
|
Gene NF1: c2946delT; pLEU983
|
F
|
46, XX
|
33
|
No
|
|
IGTP
|
Barcelona
|
PDF
|
Anexo
|
7PNF_SiPSrv_PM_12
|
Integrative
|
Retrovirus
|
Plexiform neurofibroma (Schawnn cells)
|
Neurofibromatosis Type 1
|
Gene NF1: c2034_2035dupC; lle679Aspfs*20
|
F
|
46, XX
|
66
|
No
|
|
IGTP
|
Barcelona
|
PDF
|
Anexo
|
3PNF_FiPSsv_PM_2
|
Non Integrative
|
Sendai virus
|
Plexiform neurofibroma (fibrobl)
|
Neurofibromatosis Type 1
|
Germinal mutation; C3943C>T; pGln 1315
|
F
|
46, XX
|
8
|
No
|
|
IGTP
|
Barcelona
|
PDF
|
Anexo
|
3PNF_SiPSsv_MM_11
|
Non Integrative
|
Sendai virus
|
Plexiform neurofibroma (Schawnn cells)
|
Neurofibromatosis Type 1
|
Germinal mutation; C3943C>T; pGln 1315
|
F
|
46, XX
|
8
|
No
|
|
IGTP
|
Barcelona
|
PDF
|
Anexo
|
5PNF_TDiPSsv_MM_4
|
Non Integrative
|
Sendai virus
|
Plexiform neurofibroma
|
Neurofibromatosis Type 1
|
Intragenic deletion E16-35 in NF1
|
M
|
46, XY
|
10
|
No
|
|
IGTP
|
Barcelona
|
PDF
|
Anexo
|
5PNF_TDiPSsv_PM_6
|
non Integrative
|
Sendai virus
|
Plexiform neurofibroma
|
Neurofibromatosis Type 1
|
Intragenic deletion E16-35 in NF1
|
M
|
46, XY
|
10
|
No
|
|
IGTP
|
Barcelona
|
PDF
|
Anexo
|
L749.1
|
Integrative
|
Retrovirus
|
Fibroblasts
|
Leigh syndrome
|
gen MT-ATP6, m.8993T>G;p.Leu156Arg (heteroplasmia 90%)
|
M
|
46,XY
|
8 months
|
No
|
|
IIBM-CSIC-UAM
|
Valencia
|
PDF
|
Anexo
|
Oex2054SV.4
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
Autosomal dominant optic atrophy
|
gen OPA1, c.1861C>T;p.Gln621Ter
|
M
|
46,XY
|
Unknown
|
No
|
|
IIBM-CSIC-UAM
|
Valencia
|
PDF
|
Anexo
|
N44SV.5
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
No
|
Unknown
|
M
|
46,XY
|
Unknown
|
No
|
|
IIBM-CSIC-UAM
|
Valencia
|
PDF
|
Anexo
|
PG64SV.2
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
Defects of intergeNomic communication
|
Gene POLG, c.2243G>C; p.Trp748Ser
|
F
|
46,XX
|
36
|
No
|
|
IIBM-CSIC-UAM
|
Valencia
|
PDF
|
Anexo
|
GFM1SV.25
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
Severe mitocondrial encephalopathy
|
Gene GFM1, c.1404delA; p.Gly469Valfs*84 and c.2011CNT; p.Arg671Cys
|
F
|
46,XX
|
5
|
No
|
|
IIBM-CSIC-UAM
|
Valencia
|
PDF
|
Anexo
|
LND554SV.3
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
Leigh syndrome
|
Gene MT-ND5, m.13513G>A; p.D393N
|
M
|
46,XY
|
9 months
|
No
|
|
IIBM-CSIC-UAM
|
Valencia
|
PDF
|
Anexo
|
MA5622-FiPS4F1
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
McArdle disease
|
Gene PYGM: c.148C>T; p.Arg50Ter
|
F
|
46,XX
|
Unknown
|
No
|
|
IIBM-CSIC-UAM
|
Valencia
|
PDF
|
Anexo
|
OAS545-FiPS4F1
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
Autosomal dominant optic atrophy
|
c.1635C>A; p.Ser545Arg, in the gene OPA1
|
M
|
46,XY
|
Unknown
|
No
|
|
IIBM-CSIC-UAM
|
Valencia
|
PDF
|
Anexo
|
FCE-FiPS4F7
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
No
|
Unknown
|
M
|
46,XY
|
Unknown
|
No
|
|
IIBM-CSIC-UAM
|
Valencia
|
PDF
|
Anexo
|
CT PBiPS1-Sv4F-1
|
Non Integrative
|
Sendai virus
|
Perif. blood monon. cells
|
Cardiotoxicidad a las antraciclinas
|
No
|
M
|
46, XY
|
7
|
No
|
|
IIS La Fe-CMRB
|
Barcelona
|
PDF
|
Anexo
|
CT PBiPS2-Sv4F-1
|
Non integrative
|
Sendai virus
|
Perif. blood monon. cells
|
Cardiac toxicity
|
No
|
M
|
46,XY,inv(12)(p11.2q13.3); p12
|
14
|
No
|
|
IIS La Fe-CMRB
|
Barcelona
|
PDF
|
Anexo
|
MAMcA2-BiPS4F7 o McA2.7
|
Non Integrative
|
Sendai virus
|
Perif. blood monon. cells
|
McArdle disease
|
Gene PYGM: NM_005609: c.2392T>C; p.Trp798Arg
|
F
|
46, XX
|
70
|
No
|
|
IIS-HU 12Octubre
|
Valencia
|
PDF
|
Anexo
|
BST PBiPS1-SV4F-1
|
Non Integrative
|
Sendai virus
|
Perif. blood monon. cells
|
Rare bood type
|
Fenotype vel negative
|
F
|
46, XX
|
52
|
No
|
|
IMIM-BST-CMRB
|
Barcelona
|
PDF
|
Anexo
|
BST PBiPS2-SV4F-6
|
Non Integrative
|
Sendai virus
|
Perif. blood monon. cells
|
No rare blood types
|
No
|
M
|
46, XY
|
62
|
No
|
|
IMIM-BST-CMRB
|
Barcelona
|
PDF
|
Anexo
|
RP1_FiPS4F1.6
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
Retinitis pigmentosa
|
PDE6C gene; c.305G>A, p.Arg102His; c.1268deT, p.LEU423Ter
|
M
|
46, XY
|
51
|
No
|
|
IMO
|
Barcelona
|
PDF
|
Anexo
|
RP2_FiPS4F2.2
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
Retinitis pigmentosa
|
USH 2A gene; c.2209C>T, p.Arg737Ter; c.8693A>C, p.Tyr2898Ser
|
F
|
46, XX
|
63
|
No
|
|
IMO
|
Barcelona
|
PDF
|
Anexo
|
STGD1_ FiPS4F1.5
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
Stargardt disease
|
ABCA4 gene; c.4253+4C>T; c.6089G>A, pArg2030Gin
|
F
|
46, XX
|
29
|
No
|
|
IMO
|
Barcelona
|
PDF
|
Anexo
|
STGD2_ FiPS4F1.7
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
Stargardt disease
|
ABCA4 gene; c.514G>A, p.Gly172Ser; c.2023G>A, p.Val675lle; c.3211_3212insGT, p.Ser1071fs*14
|
M
|
46, XY, inv(1)(p13p34)
|
20
|
No
|
|
IMO
|
Barcelona
|
PDF
|
Anexo
|
RP3_FiPSC4F11
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
Retinitis pigmentosa
|
c.644C>T, p.Pro215Leu in heterozigosis in gen RHO
|
F
|
46, XX
|
35
|
No
|
|
IMO
|
Barcelona
|
PDF
|
Anexo
|
BEST1_FiPS4F1
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
Best disease
|
BEST1 gene; c.229C>T, p.Pro77Ser
|
F
|
46, XX t(4,22)(p14; q12)
|
35
|
No
|
|
IMO
|
Barcelona
|
PDF
|
Anexo
|
PDE6C_ FiPSC4F1
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
Cone dystrohy
|
PDE6C gene; c.1670G>A; .Arg577 Gln
|
M
|
46, XY
|
42
|
No
|
|
IMO
|
Barcelona
|
PDF
|
Anexo
|
hiPS-drg9
|
Integrative
|
Retrovirus
|
Fibroblasts
|
No
|
No
|
M
|
46, XY
|
Newborn
|
No
|
|
Inbiomed
|
Barcelona
|
PDF
|
Anexo
|
hiPS-drg13
|
Integrative
|
Retrovirus
|
Fibroblasts
|
No
|
No
|
M
|
46, XY
|
Newborn
|
No
|
|
Inbiomed
|
Barcelona
|
PDF
|
Anexo
|
CBiPS1sv-4F-5
|
Non Integrative
|
Sendai virus
|
CD133+ cord blood
|
No
|
No
|
F
|
46, XX
|
0
|
No
|
|
Inbiomed
|
Barcelona
|
PDF
|
Anexo
|
CBiPS1sv-4F-40
|
Non Integrative
|
Sendai virus
|
CD133+ cord blood
|
No
|
No
|
F
|
46, XX
|
0
|
No
|
|
Inbiomed
|
Barcelona
|
PDF
|
Anexo
|
IB SvC1
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
No
|
No
|
M
|
46, XY
|
Unknown
|
No
|
|
Inbiomed
|
Barcelona
|
PDF
|
Anexo
|
IB PD-G1
|
Integrative
|
Lentivirus
|
Fibroblasts
|
Parkinson disease
|
Gene LRRK2, G2019S
|
F
|
46, XX
|
Adult
|
No
|
|
Inbiomed
|
Barcelona
|
PDF
|
Anexo
|
IB PD-G2
|
Integrative
|
Lentivirus
|
Fibroblasts
|
Parkinson disease
|
Gene LRRK2, G2019S
|
M
|
46, XX
|
Adult
|
No
|
|
Inbiomed
|
Barcelona
|
PDF
|
Anexo
|
IB PD-I1
|
Integrative
|
Lentivirus
|
Fibroblasts
|
Parkinson disease
|
No
|
F
|
46, XX
|
Adult
|
No
|
|
Inbiomed
|
Barcelona
|
PDF
|
Anexo
|
IB PD-P1
|
Integrative
|
Lentivirus
|
Fibroblasts
|
Parkinson disease
|
Gene PINK1, c1488+1G>A+c.1252_1488 (-exon7/del)
|
M
|
46, XY
|
Unknown
|
No
|
|
Inbiomed
|
Barcelona
|
PDF
|
Anexo
|
IB PD-P2
|
Integrative
|
Lentivirus
|
Fibroblasts
|
Parkinson disease
|
Gene PINK1, c1488+1G>A
|
M
|
46, XY
|
Unknown
|
No
|
|
Inbiomed
|
Barcelona
|
PDF
|
Anexo
|
IB PD-P3
|
Integrative
|
Lentivirus
|
Fibroblasts
|
Parkinson disease
|
Gene PINK1, c1488+1G>A+c.1252_1488 (-exon7/del)
|
F
|
46, XX
|
Unknown
|
No
|
|
Inbiomed
|
Barcelona
|
PDF
|
Anexo
|
IB PD-R1
|
Integrative
|
Lentivirus
|
Fibroblasts
|
Parkinson disease
|
Gene LRRK2, R1441G
|
M
|
46, XX
|
Unknown
|
No
|
|
Inbiomed
|
Barcelona
|
PDF
|
Anexo
|
IB C1 (clon A201)
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
No
|
No
|
M
|
46, XY
|
Adult
|
No
|
|
Inbiomed
|
Barcelona
|
PDF
|
Anexo
|
BS PBiPS46-Sv4F-10
|
Non Integrative
|
Sendai virus
|
Perif. blood monon. cells
|
Brugada's Syndrome
|
Seven genetic variants within SCN10A gene
|
M
|
46, XY
|
68
|
No
|
|
Institut d’Investigació Biomèdica de Girona
|
Barcelona
|
PDF
|
Anexo
|
Ctrl. BS PBiPS37-Sv4F-1
|
Non Integrative
|
Sendai virus
|
Perif. blood monon. cells
|
No
|
NO
|
M
|
46, XY
|
55
|
No
|
|
Institut d’Investigació Biomèdica de Girona
|
Barcelona
|
PDF
|
Anexo
|
GPG21-C23
|
Non Integrative
|
Episomal
|
Dermal fibroblasts
|
No
|
No
|
M
|
46, XY
|
52 years
|
No
|
No
|
Institut d’Investigació Biomèdica de Girona
|
Barcelona
|
PDF
|
Anexo
|
CT PBiPS3-Sv4F-3
|
Non Integrative
|
Sendai virus
|
Periph. blood monon. cells
|
Yes, anthracycline-induced cardiotoxicity
|
No
|
M
|
46, XY
|
7
|
No
|
|
Instituto de Investigación Sanitaria La Fe
|
Barcelona
|
PDF
|
Anexo
|
iPSC-CoQ4mut-clone 14
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
Deficiency CoQ10 syndrome
|
Gene COQ4
|
F
|
46, XX
|
4
|
No
|
|
JCLRI
|
Barcelona
|
PDF
|
Anexo
|
iPSC-CoQ4mut-clone 34
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
Deficiency CoQ10 syndrome
|
Gene COQ4
|
F
|
46, XX
|
4
|
No
|
|
JCLRI
|
Barcelona
|
PDF
|
Anexo
|
iPSC-HDFs-clone 30
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
No
|
No
|
M
|
46, XY
|
Newborn
|
No
|
|
JCLRI
|
Barcelona
|
PDF
|
Anexo
|
B-cell-iPSC
|
non Integrative
|
Sendai virus
|
CD19+CD20+ cord blood
|
No
|
No
|
F
|
46, XX
|
0
|
No
|
|
JCLRI
|
Barcelona
|
PDF
|
Anexo
|
iCas9-FL-BCL-iPSC
|
non Integrative
|
Sendai virus
|
CD34+CD19+ cord blood
|
No
|
iCas9 in AAVS1 locus
|
F
|
46, XX + 20 (15/20)
|
0
|
Yes. Gene editing introducing iCas9 in AAVS1 locus
|
|
JCLRI
|
Barcelona
|
PDF
|
Anexo
|
CD34 FL-iPS-17
|
Non Integrative
|
Sendaivirus
|
CD34+ CD19+ VDJH+ fetal liver cells
|
No
|
No
|
F
|
47,XX,+20[17]/47,XX,+mar[8]
|
0
|
No
|
Cells from a pool of fetal livers at 22 weeks of development
|
JCLRI
|
Barcelona
|
PDF
|
Anexo
|
iPSC-CoQ4mut-genetically corrected
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
Deficiency CoQ10 syndrome
|
No (CQ4 mutation corrected)
|
F
|
46, XX
|
4
|
Yes. CoQ4 mutation corrected
|
|
JCLRI-CABD
|
Barcelona
|
PDF
|
Anexo
|
T-cell iPSC
|
Non Integrative
|
Sendai virus
|
CD3+ cord blood
|
No
|
No
|
F
|
46,XX
|
0
|
No
|
|
JCLRI-CABD
|
Barcelona
|
PDF
|
Anexo
|
Myeloid iPSC
|
Non Integrative
|
Sendai virus
|
CD33+, CD3+, CD19-, CD34- cord blood
|
No
|
No
|
F
|
46, XX
|
0
|
No
|
|
JCLRI-CABD
|
Barcelona
|
PDF
|
Anexo
|
N1-FiPS4F#7
|
Non integrative
|
Sandai virus
|
Fibroblasts
|
No
|
No
|
F
|
46,XX,der(5)(qter->q31.1::5p15.2->5qter),i(20)(q10)[9]/46,XX,der( 5)(qter->q31.1::5p15.2->5qter)[9]
|
44
|
No
|
|
UDC-INIBIC
|
Barcelona
|
PDF
|
Anexo
|
MOA1-FiPS4F#7
|
Non integrative
|
Sendai virus
|
Fibroblasts
|
Hand osteoarthritis
|
No
|
F
|
46, XX
|
76
|
No
|
|
UDC-INIBIC
|
Barcelona
|
PDF
|
Anexo
|
MOA2-FiPS4F#17
|
Non integrative
|
Sendai virus
|
Fibroblasts
|
Hand osteoarthritis
|
No
|
F
|
46, XX
|
52
|
No
|
|
UDC-INIBIC
|
Barcelona
|
PDF
|
Anexo
|
GNB1 FiPS1-Ep6F-1
|
Non Integrative
|
Episomal
|
Dermal fibroblasts
|
GNB1-associated encephalopathy
|
NM_001282539:c.239T>C
|
M
|
46, XY
|
4 years
|
No
|
|
Universidad Autónoma de Barcelona
|
Barcelona
|
PDF
|
Anexo
|
GNB1 FiPS2-Ep6F-6
|
Non Integrative
|
Episomal
|
Dermal fibroblasts
|
No
|
Carrier of variant NM_001282539:c.239T>C
|
M
|
46, XY
|
35 years
|
No
|
|
Universidad Autónoma de Barcelona
|
Barcelona
|
PDF
|
Anexo
|
GNB1 FiPS3-Ep6F-2
|
Non Integrative
|
Episomal
|
Dermal fibroblasts
|
GNB1-associated encephalopathy
|
NM_002074.4 c.284 T>C
|
F
|
46, XX
|
6 years
|
No
|
|
Universidad Autónoma de Barcelona
|
Barcelona
|
PDF
|
Anexo
|
GNB1 FiP4-Ep6F-12
|
Non Integrative
|
Episomal
|
Dermal fibroblasts
|
GNB1-associated encephalopathy
|
Carrier of the variant NM_ 002074.4 c.284 T>C
|
F
|
46, XX
|
41 years
|
No
|
|
Universidad Autónoma de Barcelona
|
Barcelona
|
PDF
|
Anexo
|
WT1-iPS
|
Integrative
|
Retrovirus
|
Dermal fibroblasts
|
No
|
No
|
M
|
46, XY
|
Not available
|
No
|
Parent of HGSNAT1, HGSNAT2, NAGLU3 and NAGLU4
|
Universidad de Barcelona
|
Barcelona
|
PDF
|
Anexo
|
SFC6-iPS
|
Integrative
|
Retrovirus
|
Dermal fibroblasts
|
Sanfilippo C
|
Yes, genetic mutation at HGSNAT gen (c.[633+1G>A]+[1334T>C])
|
F
|
45,XX,der(13;14)(q10;q10)
|
4 years
|
No
|
|
Universidad de Barcelona
|
Barcelona
|
PDF
|
Anexo
|
SFC7-iPS
|
Integrative
|
Retrovirus
|
Dermal fibroblasts
|
Sanfilippo C
|
Yes, genetic mutation at HGSNAT gen (c.[372-2A>G]+[372-2A>G])
|
F
|
46, XX
|
4 years
|
No
|
|
Universidad de Barcelona
|
Barcelona
|
PDF
|
Anexo
|
HGSNAT1
|
Integrative
|
Retrovirus
|
Dermal fibroblasts
|
No
|
No
|
M
|
46, XY
|
Not available
|
Yes
|
Generated from WT1-iPS CRISPR/Cas9 mutations at HGSNAT gen: c.195_210del / c.207_208insCA
|
Universidad de Barcelona
|
Barcelona
|
PDF
|
Anexo
|
HGSNAT2
|
Integrative
|
Retrovirus
|
Dermal fibroblasts
|
No
|
No
|
M
|
46, XY
|
Not available
|
Yes
|
Generated from WT1-iPS CRISPR/Cas9 mutations at HGSNAT gen: c.195_210del / c.209delinsGAATG
|
Universidad de Barcelona
|
Barcelona
|
PDF
|
Anexo
|
NAGLU3
|
Integrative
|
Retrovirus
|
Dermal fibroblasts
|
No
|
No
|
M
|
46, XY
|
Not available
|
Yes
|
Generated from WT1-iP CRISPR/Cas9 homozygous mutation at NAGLU gen: p.(Phe288_Ile290del)S
|
Universidad de Barcelona
|
Barcelona
|
PDF
|
Anexo
|
NAGLU4
|
Integrative
|
Retrovirus
|
Dermal fibroblasts
|
No
|
No
|
M
|
46, XY
|
Not available
|
Yes
|
Generated from WT1-iPS CRISPR/Cas9 homozygous mutation at NAGLU gen: p.(Phe288_Ilefs*27)
|
Universidad de Barcelona
|
Barcelona
|
PDF
|
Anexo
|
BJiPSC_SV4F_9
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
No
|
No
|
M
|
46, XY
|
0 years
|
No
|
|
Universidad de Barcelona
|
Barcelona
|
PDF
|
Anexo
|
SPG FiPS1-Ep6F-4
|
Non Integrative
|
Episomal
|
Dermal fibroblasts
|
Yes, Spastic Paraparesis, type 52
|
Yes
|
F
|
46, XX
|
4 years
|
No
|
c.289C
Universidad de Barcelona
|
Barcelona
|
PDF
|
Anexo
|
|
SPG FiPS2-Ep6F-8
|
Non Integrative
|
Episomal
|
Dermal fibroblasts
|
Yes, Spastic Paraparesis, type 52
|
Yes
|
F
|
46, XX
|
42 years
|
No
|
c.289C
Universidad de Barcelona
|
Barcelona
|
PDF
|
Anexo
|
|
SWB FiPSC159-R4F-8
|
Integrative
|
Retrovirus
|
Dermal fibroblasts
|
Williams-Beuren Syndrome
|
Deletion 7q11.23
|
M
|
46, XY
|
14 years
|
No
|
|
Universidad de Barcelona
|
Barcelona
|
PDF
|
Anexo
|
SWB FiPS344-R4F-3
|
Integrative
|
Retrovirus
|
Dermal fibroblasts
|
Williams-Beuren Syndrome
|
Deletion 7q11.23
|
M
|
46, XY
|
7 years
|
No
|
|
Universidad de Barcelona
|
Barcelona
|
PDF
|
Anexo
|
NW FiPSC10II3-R4F-3
|
Integrative
|
Retrovirus
|
Dermal fibroblasts
|
Síndrome de Williams- Beuren
|
Deletion 7q11.23
|
F
|
46, XX
|
40 years
|
No
|
|
Universidad de Barcelona
|
Barcelona
|
PDF
|
Anexo
|
DUPSW FiPS701-R4F-4
|
Integrative
|
Retrovirus
|
Dermal fibroblasts
|
Autism
|
duplication of 7q11.23
|
M
|
46, XY
|
4 years
|
No
|
|
Universidad de Barcelona
|
Barcelona
|
PDF
|
Anexo
|
DUPSW FiPS501-R4F-5
|
Integrative
|
Retrovirus
|
Dermal fibroblasts
|
Autism
|
Duplication of 7q11.23
|
M
|
46, XY
|
17 years
|
No
|
|
Universidad de Barcelona
|
Barcelona
|
PDF
|
Anexo
|
CT ADF1-iPS3F6
|
Integrative
|
Retrovirus
|
Dermal fibroblasts
|
No
|
No
|
F
|
46, XX
|
38 years
|
No
|
|
Universidad de Málaga
|
Granada
|
PDF
|
Anexo
|
MD FiPS3304-Sv4F-5
|
Non Integrative
|
Sendai virus
|
Dermal fibroblasts
|
Yes, alterations in neurotransmitters
|
c.C1036T / TEFM
|
M
|
46, XY
|
14 years
|
No
|
|
Universidad de Zaragoza
|
Barcelona
|
PDF
|
Anexo
|
MD FiPS3236-Sv4F-9
|
Non Integrative
|
Sendai virus
|
Dermal fibroblasts
|
Yes, alterations in neurotransmitters
|
c.692T>C; c.152+1G
|
M
|
46, XY
|
5 years
|
No
|
|
Universidad de Zaragoza
|
Barcelona
|
PDF
|
Anexo
|
[SWB] FiPS-4F-5-6
|
Integrative
|
Retrovirus
|
Fibroblasts
|
Williams-Beuren syndrome
|
7q.11.23 deletion
|
F
|
46, XX
|
15
|
No
|
|
UPF-CMRB
|
Barcelona
|
PDF
|
Anexo
|
[SWB] FiPS-4F-1-1
|
Integrative
|
Retrovirus
|
Fibroblasts
|
Williams-Beuren syndrome
|
7q11.23 deletion
|
F
|
46, XX
|
15
|
No
|
|
UPF-CMRB
|
Barcelona
|
PDF
|
Anexo
|
[DUP7] FiPS-4F-4-6
|
Integrative
|
Retrovirus
|
Fibroblasts
|
Autism
|
Gene DUP7, 7q.11.23 duplication
|
F
|
46, XX
|
13
|
No
|
|
UPF-CMRB
|
Barcelona
|
PDF
|
Anexo
|
[DUP7] FiPS-4F-3-1
|
Integrative
|
Retrovirus
|
Fibroblasts
|
Autism
|
Gene DUP7, 7q.11.23 duplication
|
F
|
46, XX
|
8
|
No
|
|
UPF-CMRB
|
Barcelona
|
PDF
|
Anexo
|
DUPSW FiPS301 R4F-1
|
Integrative
|
Retrovirus
|
Fibroblasts
|
Williams-Beuren syndrome
|
7q11.23 deletion
|
F
|
46, XX
|
15
|
No
|
|
UPF-CMRB
|
Barcelona
|
PDF
|
Anexo
|
NW FiPS 10II.3-R4F-1
|
Integrative
|
Retrovirus
|
Fibroblasts
|
Williams-Beuren Syndrome
|
Atypical deletion 7q11.23
|
F
|
46, XX
|
40
|
No
|
|
UPF-CMRB
|
Barcelona
|
PDF
|
Anexo
|
CMT2_FiPS4F1
|
Non Integrative
|
Sendai virus
|
Fibroblasts
|
Charcot-Marie Tooth disease
|
Gene GDAP1 (p.Q163X / p.T288NfsX3)
|
M
|
46,XY
|
45
|
No
|
|
UV
|
Valencia
|
PDF
|
Anexo
|