ID   MK082
AC   CVCL_A8Y8
DR   GEO; GSM2644508
DR   Wikidata; Q102114538
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (from child cell line UOXFi002-A).
CC   Omics: Transcriptomics; Microarray.
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C26845; Parkinson disease
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   51Y
CA   Finite cell line
DT   Created: 29-10-20; Last updated: 10-04-25; Version: 9
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