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Cellosaurus SKLOi001-A (CVCL_YT42)

[Text version]
Cell line name SKLOi001-A
Accession CVCL_YT42
Resource Identification Initiative To cite this cell line use: SKLOi001-A (RRID:CVCL_YT42)
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; 2020; CLCN2; Simple; p.Arg753Ter (c.2257C>T); ClinVar=VCV002418913; Zygosity=Homozygous (PubMed=32278302).
Disease Leukoencephalopathy with ataxia (NCIt: C171603)
Leukoencephalopathy with mild cerebellar ataxia and edema of the white matter (ORDO: Orphanet_363540)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 40Y
Category Induced pluripotent stem cell
Publications

PubMed=32278302; DOI=10.1016/j.scr.2020.101769
Chen Z.-L., Peng F.-H., Liu J., Xie B.-B., Xu P., Gan Z.-Q., Li M., Xu L., Zhong X.-F.
Generation of an iPSC line (SKLOi001-A) from a patient with CLCN2-related leukoencephalopathy.
Stem Cell Res. 45:101769-101769(2020)

Cross-references
Cell line databases/resources hPSCreg; SKLOi001-A
SKIP; SKIP005730
Encyclopedic resources Wikidata; Q98132681
Entry history
Entry creation12-Mar-2020
Last entry update29-Jun-2023
Version number7