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Cellosaurus GM24343 (CVCL_AZ50)

[Text version]
Cell line name GM24343
Accession CVCL_AZ50
Resource Identification Initiative To cite this cell line use: GM24343 (RRID:CVCL_AZ50)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2213; COL6A3; Simple; p.Asp563Gly (c.1688A>G); ClinVar=VCV000094910; Zygosity=Heterozygous (Coriell=GM24343).
Disease Bethlem myopathy 1 (NCIt: C126688)
Bethlem myopathy (ORDO: Orphanet_610)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 58Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM24343
Encyclopedic resources Wikidata; Q54853730
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number11