Líneas iPS

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
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
G15.AO Integrative Retrovirus Adipose derived MSC No No M 46, XY Unknown No CIMA Barcelona PDF Anexo
G15.D Integrative Retrovirus Adipose derived MSC No No M 46, XY Unknown No CIMA 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 CIMA 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 CIMA 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 MERKT 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 Pigmentary retiNosis 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
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
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
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
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
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
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
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
[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's 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 Syndrom 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
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