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Cellosaurus RMCGENi005-A (CVCL_C9I0)

[Text version]
Cell line name RMCGENi005-A
Synonyms IPS15-00009
Accession CVCL_C9I0
Resource Identification Initiative To cite this cell line use: RMCGENi005-A (RRID:CVCL_C9I0)
Comments From: Radboudumc Stem Cell Technology Center; Nijmegen; Netherlands.
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.Val256Val (c.768G>T); ClinVar=VCV000099505; Zygosity=Homozygous; Note=Affects splicing (PubMed=37441824).
Disease Stargardt disease (NCIt: C85078)
Stargardt disease (ORDO: Orphanet_827)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_C9I1 (RMCGENi005-A-1)
Sex of cell Female
Age at sampling 49Y
Category Induced pluripotent stem cell
Publications

PubMed=37441824; DOI=10.1016/j.scr.2023.103164
Dyah Winiarty Karjosukarso, Femke Bukkems, Lonneke Duijkers, Nico Leijsten, Carel B. Hoyng, Rob W.J. Collin;
Generation of iPSC lines from three Stargardt patients carrying bi-allelic ABCA4 variants.
Stem Cell Res. 71:103164-103164(2023)

Cross-references
Cell line databases/resources hPSCreg; RMCGENi005-A
Biological sample resources BioSamples; SAMEA113611953
Encyclopedic resources Wikidata; Q123033359
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number3