ID   SKLOi001-A
AC   CVCL_YT42
DR   hPSCreg; SKLOi001-A
DR   SKIP; SKIP005730
DR   Wikidata; Q98132681
RX   PubMed=32278302;
CC   From: State Key Laboratory of Ophthalmology, Sun Yat-sen University; Guangzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 2020; CLCN2; Simple; p.Arg753Ter (c.2257C>T); ClinVar=VCV002418913; Zygosity=Homozygous (PubMed=32278302).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
DI   NCIt; C171603; Leukoencephalopathy with ataxia
DI   ORDO; Orphanet_363540; Leukoencephalopathy with mild cerebellar ataxia and edema of the white matter
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   40Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 7
//
RX   PubMed=32278302; DOI=10.1016/j.scr.2020.101769;
RA   Chen Z.-L., Peng F.-H., Liu J., Xie B.-B., Xu P., Gan Z.-Q., Li M.,
RA   Xu L., Zhong X.-F.;
RT   "Generation of an iPSC line (SKLOi001-A) from a patient with
RT   CLCN2-related leukoencephalopathy.";
RL   Stem Cell Res. 45:101769-101769(2020).
//