ID   ND30364
AC   CVCL_EY67
DR   Coriell; ND30364
DR   NHCDR; ND30364
DR   Wikidata; Q54929359
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Unspecified (NHCDR=ND30364).
CC   Discontinued: Coriell; ND30364; true.
CC   Discontinued: NHCDR; ND30364; true.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C26845; Parkinson's disease
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   66Y
CA   Finite cell line
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 14
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