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Cellosaurus GM22394 (CVCL_T894)

[Text version]
Cell line name GM22394
Accession CVCL_T894
Resource Identification Initiative To cite this cell line use: GM22394 (RRID:CVCL_T894)
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 (Coriell=GM22394).
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 Children:
CVCL_T897 (VCP-#1)CVCL_T898 (VCP-#2)CVCL_T899 (VCP-#4)
Originate from same individual CVCL_T893 ! GM22393
Sex of cell Male
Age at sampling 37Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM22394
Encyclopedic resources Wikidata; Q54852561
Entry history
Entry creation03-Feb-2014
Last entry update30-Jan-2024
Version number11