ID   MK082
AC   CVCL_A8Y8
DR   GEO; GSM2644508
DR   Wikidata; Q102114538
CC   Sequence variation: Mutation; HGNC; 4177; GBA; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (from child cell line).
CC   Omics: Transcriptome analysis.
CC   Derived from sampling site: Skin; dermis. Cell type=Fibroblast.
DI   NCIt; C26845; Parkinson's disease
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Male
AG   51Y
CA   Finite cell line
DT   Created: 29-10-20; Last updated: 17-03-22; Version: 4
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