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Cellosaurus GM23835 (CVCL_GT02)

[Text version]
Cell line name GM23835
Accession CVCL_GT02
Resource Identification Initiative To cite this cell line use: GM23835 (RRID:CVCL_GT02)
Comments 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=GM23835).
  • Mutation; HGNC; HGNC:4284; GJB2; Simple; p.Met34Thr (c.101T>C); ClinVar=VCV000017000; Zygosity=Heterozygous (Coriell=GM23835).
Disease Deafness, autosomal recessive 1A (NCIt: C129022)
Autosomal recessive non-syndromic sensorineural deafness type DFNB (ORDO: Orphanet_90636)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 9Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM23835
Encyclopedic resources Wikidata; Q54853363
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number14