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Cellosaurus GM22393 (CVCL_T893)

[Text version]
Cell line name GM22393
Accession CVCL_T893
Resource Identification Initiative To cite this cell line use: GM22393 (RRID:CVCL_T893)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 12666; VCP; Simple; p.Leu198Trp (c.593T>G); Zygosity=Heterozygous (Coriell=GM22393).
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_T894 ! GM22394
Sex of cell Male
Age at sampling 37Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM22393
Encyclopedic resources Wikidata; Q54852560
Entry history
Entry creation03-Feb-2014
Last entry update30-Jan-2024
Version number12