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Cellosaurus GM20926 (CVCL_HM40)

[Text version]
Cell line name GM20926
Accession CVCL_HM40
Resource Identification Initiative To cite this cell line use: GM20926 (RRID:CVCL_HM40)
Comments Population: Caucasian; Lithuanian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:12666; VCP; Simple; p.Leu198Trp (c.593T>G); Zygosity=Heterozygous (Coriell=GM20926).
Disease Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (NCIt: C122663)
Adult-onset distal myopathy due to VCP mutation (ORDO: Orphanet_329478)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 35Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM20926
Cell line databases/resources CLO; CLO_0015373
Encyclopedic resources Wikidata; Q54851458
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number12