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Cellosaurus GM20272 (CVCL_0R42)

[Text version]
Cell line name GM20272
Accession CVCL_0R42
Resource Identification Initiative To cite this cell line use: GM20272 (RRID:CVCL_0R42)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Homozygous (Coriell=GM20272).
Disease Gaucher disease (NCIt: C61268)
Gaucher disease (ORDO: Orphanet_355)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Age unspecified
Category Finite cell line
Publications

PubMed=36130205; DOI=10.1093/hmg/ddac233; PMCID=PMC9941838
Laura J. Smith, Magdalena Maria Bolsinger, Kai-Yin Chau, Matthew E. Gegg, Anthony Henry Vernon Schapira;
The GBA variant E326K is associated with alpha-synuclein aggregation and lipid droplet accumulation in human cell lines.
Hum. Mol. Genet. 32:773-789(2023)

Cross-references
Cell line collections (Providers) Coriell; GM20272
Cell line databases/resources CLO; CLO_0027830
Encyclopedic resources Wikidata; Q54850880
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number16