Cellosaurus logo
expasy logo

Cellosaurus GM21752 (CVCL_HL31)

[Text version]
Cell line name GM21752
Accession CVCL_HL31
Resource Identification Initiative To cite this cell line use: GM21752 (RRID:CVCL_HL31)
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; HGNC:12666; VCP; Simple; p.Arg155His (c.464G>A); ClinVar=VCV000008468; Zygosity=Heterozygous (Coriell=GM21752).
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_HL30 ! GM21751
Sex of cell Male
Age at sampling 46Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM21752
Encyclopedic resources Wikidata; Q54852123
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number11