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Cellosaurus GM21751 (CVCL_HL30)

[Text version]
Cell line name GM21751
Accession CVCL_HL30
Resource Identification Initiative To cite this cell line use: GM21751 (RRID:CVCL_HL30)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:12666; VCP; Simple; p.Arg155His (c.464G>A); ClinVar=VCV000008468; Zygosity=Heterozygous (Coriell=GM21751).
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_HL31 ! GM21752
Sex of cell Male
Age at sampling 46Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM21751
Encyclopedic resources Wikidata; Q54852122
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number10