ID   ND50094
AC   CVCL_RY39
DR   NHCDR; ND50094
DR   Wikidata; Q54930322
CC   Population: Caucasian; Greek.
CC   Sequence variation: Mutation; HGNC; 11138; SNCA; Simple; p.Ala53Thr (c.157G>A); ClinVar=VCV000014007; Zygosity=Heterozygous (NHCDR=ND50094).
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: 14-05-18; Last updated: 30-01-24; Version: 10
//