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Cellosaurus GM23707 (CVCL_6B21)

[Text version]
Cell line name GM23707
Accession CVCL_6B21
Resource Identification Initiative To cite this cell line use: GM23707 (RRID:CVCL_6B21)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:3331; EMD; Simple; p.Gln119Argfs*2 (c.356delA); Zygosity=Hemizygous (Coriell=GM23707).
Disease Emery-Dreifuss muscular dystrophy (NCIt: C84685)
Emery-Dreifuss muscular dystrophy (ORDO: Orphanet_261)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Age unspecified
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM23707
Encyclopedic resources Wikidata; Q54853252
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number11