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Cellosaurus VCP-#1 (CVCL_T897)

[Text version]
Cell line name VCP-#1
Synonyms HPS0351
Accession CVCL_T897
Resource Identification Initiative To cite this cell line use: VCP-#1 (RRID:CVCL_T897)
Comments Population: Caucasian.
Derived from site: In situ; Thigh, skin; UBERON=UBERON_0004262.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 12666; VCP; Simple; p.Leu198Trp (c.593T>G); Zygosity=Heterozygous (from parent cell line).
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)
Hierarchy Parent: CVCL_T894 (GM22394)
Sex of cell Male
Age at sampling 37Y
Category Induced pluripotent stem cell
Cell line collections (Providers) RCB; HPS0351
Cell line databases/resources SKIP; SKIP000225
Encyclopedic resources Wikidata; Q54992967
Entry history
Entry creation03-Feb-2014
Last entry update29-Jun-2023
Version number12