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Cellosaurus SKLOi002-A (CVCL_C1WN)

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Cell line name SKLOi002-A
Accession CVCL_C1WN
Resource Identification Initiative To cite this cell line use: SKLOi002-A (RRID:CVCL_C1WN)
Comments From: State Key Laboratory of Ophthalmology, Sun Yat-sen University; Guangzhou; China.
Population: Chinese; Han.
Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Sequence variations
  • Mutation; HGNC; HGNC:9454; PROM1; Simple; p.Glu207Ter (c.619G>T); Zygosity=Homozygous (PubMed=36191543).
Disease Stargardt disease (NCIt: C85078)
Stargardt disease (ORDO: Orphanet_827)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 38Y
Category Induced pluripotent stem cell
Publications

PubMed=36191543; DOI=10.1016/j.scr.2022.102913
Ping Xu, Fu-Ying Guo, Bing-Bing Xie, Xiu-Feng Zhong;
Generation and characterization of two iPSC lines carrying heterozygous or homozygous nonsense mutation in PROM1 gene from a single family.
Stem Cell Res. 64:102913-102913(2022)

Cross-references
Cell line databases/resources hPSCreg; SKLOi002-A
Encyclopedic resources Wikidata; Q114313031
Entry history
Entry creation22-Sep-2022
Last entry update19-Dec-2024
Version number5