ID   NIAi002-A-3
AC   CVCL_D0K2
SY   Iso-WT SNCA 40760 PL3B7
DR   hPSCreg; NIAi002-A-3
DR   Wikidata; Q123033181
RX   PubMed=37229975;
CC   From: Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health; Bethesda; USA.
CC   Sequence variation: Mutation; HGNC; 11138; SNCA; Simple_corrected; p.Ala53Thr (c.157G>A); ClinVar=VCV000014007; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=37229975).
DI   NCIt; C198602; Parkinson disease 1, autosomal dominant
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_D0JY ! NIAi002-A
SX   Female
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37229975; DOI=10.1016/j.scr.2023.103125; PMCID=PMC10411637;
RA   Kozhushko N., Beilina A., Cookson M.R.;
RT   "Generation of gene-corrected isogenic controls from Parkinson's
RT   disease patient iPSC lines carrying the pathogenic SNCA p.A53T
RT   variant.";
RL   Stem Cell Res. 69:103125-103125(2023).
//