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Cellosaurus GM22396 (CVCL_T896)

[Text version]
Cell line name GM22396
Accession CVCL_T896
Resource Identification Initiative To cite this cell line use: GM22396 (RRID:CVCL_T896)
Comments Population: Caucasian.
Derived from site: In situ; Thigh, skin; UBERON=UBERON_0004262.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:12666; VCP; Simple; p.Leu198Trp (c.593T>G); Zygosity=Heterozygous (Coriell=GM22396).
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)
Originate from same individual CVCL_T895 ! GM22395
Sex of cell Female
Age at sampling 39Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM22396
Encyclopedic resources Wikidata; Q54852563
Entry history
Entry creation03-Feb-2014
Last entry update19-Dec-2024
Version number12