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Cellosaurus GM22599 (CVCL_BU78)

[Text version]
Cell line name GM22599
Accession CVCL_BU78
Resource Identification Initiative To cite this cell line use: GM22599 (RRID:CVCL_BU78)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:12666; VCP; Simple; p.Arg155His (c.464G>A); ClinVar=VCV000008468; Zygosity=Heterozygous (Coriell=GM22599).
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_BU79 ! GM22600
Sex of cell Female
Age at sampling 32Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM22599
Encyclopedic resources Wikidata; Q54852648
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number11