ID   EDi008-A
AC   CVCL_LE55
SY   G51D-3
DR   BioSamples; SAMEA3174308
DR   EBiSC; EDi008-A
DR   ECACC; 66540060
DR   hPSCreg; EDi008-A
DR   Wikidata; Q54831977
CC   From: University of Edinburgh; Edinburgh; United Kingdom.
CC   Sequence variation: Mutation; HGNC; 11138; SNCA; Simple; p.Gly51Asp (c.152G>A); ClinVar=VCV000097000; Zygosity=Heterozygous (from autologous cell line EDi008-B).
CC   Discontinued: EBiSC; EDi008-A; true.
CC   Discontinued: ECACC; 66540060; true.
CC   Discontinued: hPSCreg; EDi008-A; true.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C198602; Parkinson disease 1, autosomal dominant
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_LE56 ! EDi008-B
SX   Female
AG   40-50Y
CA   Induced pluripotent stem cell
DT   Created: 22-08-17; Last updated: 30-01-24; Version: 14
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