Cellosaurus cell line SKLOi001-A (CVCL

Cross-references
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; 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 Zhuo-Lin Chen, Fu-Hua Peng, Jia Liu, Bing-Bing Xie, Ping Xu, Zhou-Qing Gan, Min Li, Li Xu, Xiu-Feng Zhong; Generation of an iPSC line (SKLOi001-A) from a patient with CLCN2-related leukoencephalopathy. Stem Cell Res. 45:101769-101769(2020)
Cell line databases/resources	hPSCreg; SKLOi001-A SKIP; SKIP005730
Encyclopedic resources	Wikidata; Q98132681
Entry history
Entry creation	12-Mar-2020
Last entry update	19-Dec-2024
Version number	8