ID   RMCGENi020-A
AC   CVCL_D4XJ
SY   IPS15-00004
DR   BioSamples; SAMEA114482613
DR   hPSCreg; RMCGENi020-A
DR   Wikidata; Q127384059
RX   PubMed=37979432;
CC   From: Radboudumc Stem Cell Technology Center; Nijmegen; Netherlands.
CC   Karyotypic information: Has an heterozygous deletion in chromosome 1p22.3 detected between positions g.86,398,969-90,924,388 (~4.5 Mb), which is not found in the original fibroblast line (PubMed=37979432).
CC   Sequence variation: Mutation; HGNC; 34; ABCA4; Simple; p.Phe608Ile (c.1822T>A); ClinVar=VCV000236087; Zygosity=Heterozygous (PubMed=37979432).
CC   Sequence variation: Mutation; HGNC; 34; ABCA4; Simple; c.4253+43G>A; ClinVar=VCV000099265; Zygosity=Heterozygous (PubMed=37979432).
CC   Sequence variation: Mutation; HGNC; 34; ABCA4; Simple; c.6006-609T>A; Zygosity=Heterozygous (PubMed=37979432).
CC   Omics: SNP array analysis.
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   46Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-09-24; Version: 2
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RX   PubMed=37979432; DOI=10.1016/j.scr.2023.103252;
RA   Suarez-Herrera N., Leijsten N., Albert S., Bax N.M., Hoyng C.B.,
RA   Cremers F.P.M., Garanto A., Collin R.W.J.;
RT   "Generation of an iPSC line (RMCGENi020-A) from a patient with
RT   Stargardt disease harboring the recurrent intronic ABCA4 variant
RT   c.4253+43G>A.";
RL   Stem Cell Res. 73:103252-103252(2023).
//