ID   LCSBi003-A
AC   CVCL_A8LW
SY   ND40996-PARK1/SNCA-A53T-clone 1; ND40996-SNCA-A53T-clone 1; ND40996-clone 1
DR   hPSCreg; LCSBi003-A
DR   Wikidata; Q108820770
RX   PubMed=34826737;
CC   From: Luxembourg Centre for Systems Biomedicine; Belvaux; Luxembourg.
CC   Population: Caucasian; Greek.
CC   Sequence variation: Mutation; HGNC; HGNC:11138; SNCA; Simple; p.Ala53Thr (c.157G>A); ClinVar=VCV000014007; Zygosity=Heterozygous (PubMed=34826737).
CC   Omics: Variations; Array-based CGH.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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_RY33 ! ND40996
SX   Female
AG   51Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 10-04-25; Version: 6
//
RX   PubMed=34826737; DOI=10.1016/j.scr.2021.102600; PMCID=PMC9124237;
RA   Novak G., Finkbeiner S., Skibinski G., Skupin A.;
RT   "Generation of two human induced pluripotent stem cell lines (iPSCs)
RT   with mutations of the alpha-synuclein (SNCA) gene associated with
RT   Parkinson's disease; the A53T mutation (LCSBi003) and a triplication
RT   of the SNCA gene (LCSBi007).";
RL   Stem Cell Res. 57:102600-102600(2021).
//