ID   GM20272
AC   CVCL_0R42
DR   CLO; CLO_0027830
DR   Coriell; GM20272
DR   Wikidata; Q54850880
RX   PubMed=36130205;
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Homozygous (Coriell=GM20272).
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   Age unspecified
CA   Finite cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 16
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RX   PubMed=36130205; DOI=10.1093/hmg/ddac233; PMCID=PMC9941838;
RA   Smith L.J., Bolsinger M.M., Chau K.-Y., Gegg M.E., Schapira A.H.V.;
RT   "The GBA variant E326K is associated with alpha-synuclein aggregation
RT   and lipid droplet accumulation in human cell lines.";
RL   Hum. Mol. Genet. 32:773-789(2023).
//