ID   RMCGENi005-A
AC   CVCL_C9I0
SY   IPS15-00009
DR   BioSamples; SAMEA113611953
DR   hPSCreg; RMCGENi005-A
DR   Wikidata; Q123033359
RX   PubMed=37441824;
CC   From: Radboudumc Stem Cell Technology Center; Nijmegen; Netherlands.
CC   Sequence variation: Mutation; HGNC; 34; ABCA4; Simple; p.Val256Val (c.768G>T); ClinVar=VCV000099505; Zygosity=Homozygous; Note=Affects splicing (PubMed=37441824).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
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   49Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
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).
//