ID   EDi008-B
AC   CVCL_LE56
SY   G51D-4; EDIi008-B; EDINi008-B
DR   BioSamples; SAMEA3174606
DR   EBiSC; EDi008-B
DR   ECACC; 66540061
DR   hPSCreg; EDi008-B
DR   Wikidata; Q54831978
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 (EBiSC=EDi008-B).
CC   Discontinued: ECACC; 66540061; 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_LE55 ! EDi008-A
SX   Female
AG   40-50Y
CA   Induced pluripotent stem cell
DT   Created: 22-08-17; Last updated: 30-01-24; Version: 12
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