ID   ND40996
AC   CVCL_RY33
DR   NHCDR; ND40996
DR   Wikidata; Q54930183
RX   PubMed=34826737;
CC   Population: Caucasian; Greek.
CC   Sequence variation: Mutation; HGNC; 11138; SNCA; Simple; p.Ala53Thr (c.157G>A); ClinVar=VCV000014007; Zygosity=Heterozygous (NHCDR=ND40996).
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)
SX   Female
AG   51Y
CA   Finite cell line
DT   Created: 14-05-18; Last updated: 30-01-24; Version: 10
//
RX   PubMed=34826737; DOI=10.1016/j.scr.2021.102600;
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).
//