ID   ND50086
AC   CVCL_RY37
DR   NHCDR; ND50086
DR   Wikidata; Q54930314
CC   Population: Caucasian; Greek.
CC   Characteristics: Non-edited control for NH50085 (Cellosaurus=CVCL_RY36).
CC   Sequence variation: Mutation; HGNC; HGNC:11138; SNCA; Simple; p.Ala53Thr (c.157G>A); ClinVar=VCV000014007; Zygosity=Heterozygous (NHCDR=ND50086).
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_RY35 ! ND50050
SX   Female
AG   51Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 19-12-24; Version: 12
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