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Cellosaurus GM22240 (CVCL_BU37)

[Text version]
Cell line name GM22240
Accession CVCL_BU37
Resource Identification Initiative To cite this cell line use: GM22240 (RRID:CVCL_BU37)
Comments Population: Caucasian.
Donor information: At sampling donor was not affected with myopathy but at significant risk for disease.
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.Arg155His (c.464G>A); ClinVar=VCV000008468; Zygosity=Heterozygous (Coriell=GM22240).
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_BU36 ! GM22239
Sex of cell Female
Age at sampling 38Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM22240
Encyclopedic resources Wikidata; Q54852451
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number12