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Cellosaurus GM23796 (CVCL_AD78)

[Text version]
Cell line name GM23796
Accession CVCL_AD78
Resource Identification Initiative To cite this cell line use: GM23796 (RRID:CVCL_AD78)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:10483; RYR1; Simple; p.Arg109Trp (c.325C>T); ClinVar=VCV000012988; Zygosity=Heterozygous (from familial inference of GM23800).
  • Mutation; HGNC; HGNC:10483; RYR1; Simple; p.Arg2241Ter (c.6721C>T); Zygosity=Heterozygous (from familial inference of GM23800).
Disease Minicore myopathy with external ophthalmoplegia (NCIt: C150608)
Congenital multicore myopathy with external ophthalmoplegia (ORDO: Orphanet_98905)
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; GM23796
Encyclopedic resources Wikidata; Q54853314
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number11