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; HGNC:34; ABCA4; Simple; p.Phe608Ile (c.1822T>A); ClinVar=VCV000236087; Zygosity=Heterozygous (PubMed=37979432).
CC   Sequence variation: Mutation; HGNC; HGNC:34; ABCA4; Simple; c.4253+43G>A; ClinVar=VCV000099265; Zygosity=Heterozygous (PubMed=37979432).
CC   Sequence variation: Mutation; HGNC; HGNC:34; ABCA4; Simple; c.6006-609T>A; Zygosity=Heterozygous (PubMed=37979432).
CC   Omics: Variations; 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: 10-04-25; Version: 4
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RX   PubMed=37979432; DOI=10.1016/j.scr.2023.103252;
RA   Suarez-Herrera, Nuria
RA   Leijsten, Nico
RA   Albert, Silvia
RA   Bax, Nathalie M.
RA   Hoyng, Carel B.
RA   Cremers, Frans P.M.
RA   Garanto, Alejandro
RA   Collin, Rob 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).
//