Cellosaurus logo
expasy logo

Cellosaurus GM23284 (CVCL_BV32)

[Text version]
Cell line name GM23284
Accession CVCL_BV32
Resource Identification Initiative To cite this cell line use: GM23284 (RRID:CVCL_BV32)
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.Arg155His (c.464G>A); ClinVar=VCV000008468; Zygosity=Heterozygous (Coriell=GM23284).
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_BV31 ! GM23283
Sex of cell Male
Age at sampling 57Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM23284
Encyclopedic resources Wikidata; Q54852966
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number11