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Cellosaurus GM20269 (CVCL_0R40)

[Text version]
Cell line name GM20269
Accession CVCL_0R40
Resource Identification Initiative To cite this cell line use: GM20269 (RRID:CVCL_0R40)
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.His294Gln (c.882T>G) (H255Q); ClinVar=VCV000242810; Zygosity=Heterozygous (Coriell=GM20269).
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 2M
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM20269 - Discontinued
Cell line databases/resources CLO; CLO_0027832
Encyclopedic resources Wikidata; Q54850878
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number15