ID   SCTCi017-A
AC   CVCL_B5T6
SY   IPS15-00006
DR   BioSamples; SAMEA11422972
DR   hPSCreg; SCTCi017-A
DR   Wikidata; Q112044522
RX   PubMed=37441824;
CC   From: Radboudumc Stem Cell Technology Center; Nijmegen; Netherlands.
CC   Sequence variation: Mutation; HGNC; 34; ABCA4; Simple; p.Cys1488Arg (c.4462T>C); ClinVar=VCV000099284; Zygosity=Heterozygous (PubMed=37441824).
CC   Sequence variation: Mutation; HGNC; 34; ABCA4; Simple; c.5196+1137G>A; ClinVar=VCV000438100; Zygosity=Heterozygous (PubMed=37441824).
CC   Derived from site: In situ; Finger, skin; UBERON=UBERON_0003533.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C85078; Stargardt disease
DI   ORDO; Orphanet_827; Stargardt disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   37Y
CA   Induced pluripotent stem cell
DT   Created: 17-03-22; Last updated: 05-10-23; Version: 5
//
RX   PubMed=37441824; DOI=10.1016/j.scr.2023.103164;
RA   Karjosukarso D.W., Bukkems F., Duijkers L., Leijsten N., Hoyng C.B.,
RA   Collin R.W.J.;
RT   "Generation of iPSC lines from three Stargardt patients carrying
RT   bi-allelic ABCA4 variants.";
RL   Stem Cell Res. 71:103164-103164(2023).
//