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Cellosaurus RMCGENi021-A (CVCL_D6J7)

[Text version]
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; 34; ABCA4; Simple; p.Glu1087Lys (c.3259G>A); ClinVar=VCV000099211; Zygosity=Heterozygous (PubMed=38607040).
  • Mutation; 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
Suarez-Herrera N., Li C.H.Z., Leijsten N., Karjosukarso D.W., Corradi Z., Bukkems F., Duijkers L., Cremers F.P.M., Hoyng C.B., Garanto A., Collin R.W.J.
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 update10-Sep-2024
Version number2