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Cellosaurus GM24234 (CVCL_AZ48)

[Text version]
Cell line name GM24234
Accession CVCL_AZ48
Resource Identification Initiative To cite this cell line use: GM24234 (RRID:CVCL_AZ48)
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=Unspecified (Coriell=GM24234).
Disease Bethlem myopathy 1 (NCIt: C126688)
Bethlem myopathy (ORDO: Orphanet_610)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 20Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM24234
Encyclopedic resources Wikidata; Q54853647
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number11