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Cellosaurus GM25204 (CVCL_GT04)

[Text version]
Cell line name GM25204
Accession CVCL_GT04
Resource Identification Initiative To cite this cell line use: GM25204 (RRID:CVCL_GT04)
Comments Population: Chinese.
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.Gly59Alafs*18 (c.176_191del16); ClinVar=VCV000284906; Zygosity=Heterozygous (Coriell=GM25204).
  • Mutation; HGNC; HGNC:4284; GJB2; Simple; p.Leu79Cysfs*3 (c.235delC); ClinVar=VCV000017014; Zygosity=Heterozygous (Coriell=GM25204).
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 Female
Age at sampling 1Y6M
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM25204
Encyclopedic resources Wikidata; Q54853842
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number13