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Cellosaurus RMCGENi021-A (CVCL_D6J7)

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Cell line name RMCGENi021-A
Synonyms IPS22-00087
Accession CVCL_D6J7
Resource Identification Initiative To cite this cell line use: RMCGENi021-A (RRID:CVCL_D6J7)
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.Glu1087Lys (c.3259G>A); ClinVar=VCV000099211; Zygosity=Heterozygous (PubMed=38607040).
  • Mutation; HGNC; HGNC:34; ABCA4; Simple; p.Gln2272_Asp2273ins*11 (c.6817-713A>G); Zygosity=Heterozygous (PubMed=38607040).
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 10Y
Category Induced pluripotent stem cell
Publications

PubMed=38607040; DOI=10.3390/cells13070601; PMCID=PMC11011354
Nuria Suarez-Herrera, Catherina H.Z. Li, Nico Leijsten, Dyah Winiarty Karjosukarso, Zelia Corradi, Femke Bukkems, Lonneke Duijkers, Frans P.M. Cremers, Carel B. Hoyng, Alejandro Garanto, Rob W.J. Collin;
Preclinical development of antisense oligonucleotides to rescue aberrant splicing caused by an ultrarare ABCA4 variant in a child with early-onset Stargardt disease.
Cells 13:601.1-601.21(2024)

Cross-references
Cell line databases/resources hPSCreg; RMCGENi021-A
Biological sample resources BioSamples; SAMEA114490598
Encyclopedic resources Wikidata; Q127384061
Entry history
Entry creation02-May-2024
Last entry update19-Dec-2024
Version number3