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Cellosaurus RMCGENi020-A (CVCL_D4XJ)

[Text version]
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: SNP array analysis.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 34; ABCA4; Simple; p.Phe608Ile (c.1822T>A); ClinVar=VCV000236087; Zygosity=Heterozygous (PubMed=37979432).
  • Mutation; HGNC; 34; ABCA4; Simple; c.4253+43G>A; ClinVar=VCV000099265; Zygosity=Heterozygous (PubMed=37979432).
  • Mutation; 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
Suarez-Herrera N., Leijsten N., Albert S., Bax N.M., Hoyng C.B., Cremers F.P.M., Garanto A., Collin R.W.J.
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)

Cross-references
Cell line databases/resources hPSCreg; RMCGENi020-A
Biological sample resources BioSamples; SAMEA114482613
Encyclopedic resources Wikidata; Q127384059
Entry history
Entry creation02-May-2024
Last entry update10-Sep-2024
Version number2