ID   GM20269
AC   CVCL_0R40
DR   CLO; CLO_0027832
DR   Coriell; GM20269
DR   Wikidata; Q54850878
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.His294Gln (c.882T>G) (H255Q); ClinVar=VCV000242810; Zygosity=Heterozygous (Coriell=GM20269).
CC   Discontinued: Coriell; GM20269; probable.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C61268; Gaucher disease
DI   ORDO; Orphanet_355; Gaucher disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   2M
CA   Finite cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 15
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