Líneas iPS / iPSC lines

Example: Parkinson PINK1 lentivirus
Nombre de la línea / Name Tipo de programación / Programming type Método / Method Tipo celular / Cell type Enfermedad / Disease Mutación / Mutation Sexo / Sex Cariotipo / Karyotype Edad / Age Modificación genética / Genetic modification Comentarios / Comments Centro de origen / Center of origin Nodo de depósito / Deposit node Documento de registro / Registration form Anexo / Annex
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
PMM2 CDG FiPS01-Sv4F-11 Non Integrative Sendai virus Dermal fibroblasts PMM2-CDG Syndrome p.V44A/p.Q33* en el gen PMM2 M 46, XY 4 months No CBM-CSIC-UAM Barcelona 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,+der(1)t(1;14)(q11;q11),-14 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
Ctrl EiPSJ9-mR6F-8 Non Integrative mRNA Peripheral Blood Mononuclear Cells No No M 46, XY 51 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
NF1(-/-) edited FiPS Ctrl1-SV4F-7 Foreskin fibroblasts Sendai virus Non Integrative M 46, XY 9 years Yes NF1 gen modifiedusing CRSPR/Cas9 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
PPMS PBiPS7-Sv4F-5 Non Integrative Sendai virus Peripheral Blood Mononuclear Cells Primarily progressive multiple sclerosis (rapid progression) No M 46, XY 68 No The donor of the original cells carries the HLA-DRB1*15:01+ haplotype Vall d'Hebron Research Institute (VHIR) Barcelona PDF Anexo
PPMS PBiPS8-Sv4F-13 Non Integrative Sendai virus Peripheral Blood Mononuclear Cells Primarily progressive multiple sclerosis (rapid progression) No F 46, XX 65 No The donor of the original cells carries the HLA-DRB1*15:01+ haplotype. Vall d'Hebron Research Institute (VHIR) Barcelona PDF Anexo
PPMS PBiPS9-Sv4F-12 Non Integrative Sendai virus Peripheral Blood Mononuclear Cells Primarily progressive multiple sclerosis (rapid progression) No F 46, XX 69 No The donor of the original cells carries the HLA-DRB1*15:01+ haplotype Vall d'Hebron Research Institute (VHIR) Barcelona PDF Anexo
PPMS PBiPS10-Sv4F-1 Non Integrative Sendai virus Peripheral Blood Mononuclear Cells Primarily progressive multiple sclerosis (rapid progression) No M 46, XY 77 No The donor of the original cells carries the HLA-DRB1*15:01+ haplotype Vall d'Hebron Research Institute (VHIR) Barcelona PDF Anexo
RRMS PBiPS13-Sv4F-1 Non Integrative Sendai virus Peripheral Blood Mononuclear Cells Relapsing-remitting multiple esclerosis (rapid progression) No M 46, XY 50 No The donor of the original cells carries the HLA-DRB1*15:01+ haplotype Vall d'Hebron Research Institute (VHIR) Barcelona PDF Anexo
RRMS PBiPS14-Sv4F-7 Non Integrative Sendai virus Peripheral Blood Mononuclear Cells Relapsing-remitting multiple esclerosis (rapid progression) No M 46, XY 44 No The donor of the original cells carries the HLA-DRB1*15:01+ haplotype Vall d'Hebron Research Institute (VHIR) Barcelona PDF Anexo
C1(RP25)_UiPSC_mR5F_7 Non Integrative mRNA Urine cells No Heterocygosis mutation in EYS gene c.8834G>A (cDNA); p.Gly2945Glu (protein). F 46, XX 41 No Asymptomatic carrier. This line serves as a control (patient's daughter) for RP25_UiPSC_mR5F_8 Vall d'Hebron Research Institute (VHIR) Barcelona PDF Anexo
C2(RP25)_UiPSC_mR5F_1 Non Integrative mRNA Urine cells No Heterocygosis mutation in EYS gene c.8834G>A (cDNA); p.Gly2945Glu (protein) F 46, XX 39 No Asymptomatic carrier. This line serves as a control (patient's daughter) for RP25_UiPSC_mR5F_8 Vall d'Hebron Research Institute (VHIR) Barcelona PDF Anexo
RP25_UiPSC_mR5F_8 Non Integrative mRNA Urine cells Yes, Retinitis Pigmentosa 25 Homocigosis mutation in EYS gene c.8834G>A (cDNA); p.Gly2945Glu (protein) F 46, XX 63 No Vall d'Hebron Research Institute (VHIR) Barcelona PDF Anexo
Nombre de la línea Tipo de programación Método Tipo celular Enfermedad Mutación Sexo Cariotipo Edad Modificación genética Comentarios Centro de origen Centro de deposito Documento de registro Anexo

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Actualizado a 01/02/2022