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Cellosaurus GM23415 (CVCL_BV65)

[Text version]
Cell line name GM23415
Accession CVCL_BV65
Resource Identification Initiative To cite this cell line use: GM23415 (RRID:CVCL_BV65)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:3097; DYSF; Simple; c.1494-1G>A (c.1398-1G>A); ClinVar=VCV000094272; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM23415).
  • Mutation; HGNC; HGNC:3097; DYSF; Simple; p.Gln691Ter (c.2071C>T) (p.Gln709Ter, c.2125C>T); ClinVar=VCV000963357; Zygosity=Heterozygous (Coriell=GM23415).
Disease Limb-girdle muscular dystrophy type 2B (NCIt: C142080)
Dysferlin-related limb-girdle muscular dystrophy R2 (ORDO: Orphanet_268)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 40Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM23415
Encyclopedic resources Wikidata; Q54853058
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number13