ID   ND14143
AC   CVCL_CN35
DR   BioSample; SAMN00797959
DR   Coriell; ND14143
DR   Wikidata; Q54926350
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Unspecified (Coriell=ND14143).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C26845; Parkinson's disease
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_DD54 ! ND29756
SX   Female
AG   55Y
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 16
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