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Cellosaurus GM22550 (CVCL_BU61)

[Text version]
Cell line name GM22550
Accession CVCL_BU61
Resource Identification Initiative To cite this cell line use: GM22550 (RRID:CVCL_BU61)
Comments 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.Arg155Cys (c.463C>T); ClinVar=VCV000008469; Zygosity=Heterozygous (Coriell=GM22550).
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_BU60 ! GM22549
Sex of cell Female
Age at sampling 34Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM22550
Encyclopedic resources Wikidata; Q54852612
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number12