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Cellosaurus GM23417 (CVCL_BV66)

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Cell line name GM23417
Accession CVCL_BV66
Resource Identification Initiative To cite this cell line use: GM23417 (RRID:CVCL_BV66)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:4284; GJB2; Simple; p.Gly12Valfs*2 (c.35delG); ClinVar=VCV000017004; Zygosity=Heterozygous (Coriell=GM23417).
  • Mutation; HGNC; HGNC:4284; GJB2; Simple; p.Met34Thr (c.101T>C); ClinVar=VCV000017000; Zygosity=Heterozygous (Coriell=GM23417).
  • Mutation; HGNC; HGNC:12403; TTN; Simple; p.Val10952Leu (c.32854G>C) (p.Val13520Leu, c.40558G>C); ClinVar=VCV000130666; Zygosity=Heterozygous (Coriell=GM23417).
  • Mutation; HGNC; HGNC:12403; TTN; Simple; c.39893-1G>A (IVS192-1G>A) (c.37112-1G>A, IVS191-1G>A); ClinVar=VCV000202368; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM23417).
Disease Centronuclear myopathy 1 (NCIt: C126689)
Deafness, autosomal recessive 1A (NCIt: C129022)
Autosomal recessive non-syndromic sensorineural deafness type DFNB (ORDO: Orphanet_90636)
Autosomal dominant centronuclear myopathy (ORDO: Orphanet_169189)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_HK83 ! GM25936
Sex of cell Male
Age at sampling 9Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM23417
Encyclopedic resources Wikidata; Q54853060
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number14