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Cellosaurus GM23253 (CVCL_BV21)

[Text version]
Cell line name GM23253
Accession CVCL_BV21
Resource Identification Initiative To cite this cell line use: GM23253 (RRID:CVCL_BV21)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:12666; VCP; Simple; p.Arg159Cys (c.475C>T) (c.864C>T); ClinVar=VCV000280123; Zygosity=Heterozygous (Coriell=GM23253).
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_BV20 ! GM23252
Sex of cell Male
Age at sampling 54Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM23253
Encyclopedic resources Wikidata; Q54852938
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number12