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Cellosaurus GM22549 (CVCL_BU60)

[Text version]
Cell line name GM22549
Accession CVCL_BU60
Resource Identification Initiative To cite this cell line use: GM22549 (RRID:CVCL_BU60)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Donor information: At sampling donor was not affected with myopathy but at significant risk for disease.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:12666; VCP; Simple; p.Arg155Cys (c.463C>T); ClinVar=VCV000008469; Zygosity=Heterozygous (Coriell=GM22549).
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_BU61 ! GM22550
Sex of cell Female
Age at sampling 34Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM22549
Encyclopedic resources Wikidata; Q54852597
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number12