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Cellosaurus GM20182 (CVCL_GS90)

[Text version]
Cell line name GM20182
Accession CVCL_GS90
Resource Identification Initiative To cite this cell line use: GM20182 (RRID:CVCL_GS90)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:17009; TRIOBP; Simple; p.Arg1068Ter (c.3202C>T); ClinVar=VCV000001494; Zygosity=Homozygous (Coriell=GM20182).
Disease Deafness, autosomal recessive 28 (NCIt: C129023)
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 35Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM20182
Cell line databases/resources CLO; CLO_0027945
Encyclopedic resources Wikidata; Q54850827
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number12