Cellosaurus cell line RMCGENi020-A (CVCL

Cellosaurus RMCGENi020-A (CVCL_D4XJ)

Cross-references
Cell line name	RMCGENi020-A
Synonyms	IPS15-00004
Accession	CVCL_D4XJ
Resource Identification Initiative	To cite this cell line use: RMCGENi020-A (RRID:CVCL_D4XJ)
Comments	From: Radboudumc Stem Cell Technology Center; Nijmegen; Netherlands. 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). Omics: Variations; SNP array analysis. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:34; ABCA4; Simple; p.Phe608Ile (c.1822T>A); ClinVar=VCV000236087; Zygosity=Heterozygous (PubMed=37979432). Mutation; HGNC; HGNC:34; ABCA4; Simple; c.4253+43G>A; ClinVar=VCV000099265; Zygosity=Heterozygous (PubMed=37979432). Mutation; HGNC; HGNC:34; ABCA4; Simple; c.6006-609T>A; Zygosity=Heterozygous (PubMed=37979432).
Disease	Stargardt disease (NCIt: C85078) Stargardt disease (ORDO: Orphanet_827)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	46Y
Category	Induced pluripotent stem cell
Publications	PubMed=37979432; DOI=10.1016/j.scr.2023.103252 Nuria Suarez-Herrera, Nico Leijsten, Silvia Albert, Nathalie M. Bax, Carel B. Hoyng, Frans P.M. Cremers, Alejandro Garanto, Rob W.J. Collin; Generation of an iPSC line (RMCGENi020-A) from a patient with Stargardt disease harboring the recurrent intronic ABCA4 variant c.4253+43G>A. Stem Cell Res. 73:103252-103252(2023)
Cell line databases/resources	hPSCreg; RMCGENi020-A
Biological sample resources	BioSamples; SAMEA114482613
Encyclopedic resources	Wikidata; Q127384059
Entry history
Entry creation	02-May-2024
Last entry update	10-Apr-2025
Version number	4