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Cellosaurus GM25492 (CVCL_D2Z7)

[Text version]
Cell line name GM25492
Accession CVCL_D2Z7
Resource Identification Initiative To cite this cell line use: GM25492 (RRID:CVCL_D2Z7)
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.Glu120del (c.355GAG[1]) (c.358_360delGAG); ClinVar=VCV000017006; Zygosity=Heterozygous (Coriell=GM25492).
  • Mutation; HGNC; HGNC:4284; GJB2; Simple; p.Met195Ile (c.585G>A); ClinVar=VCV000438621; Zygosity=Heterozygous (Coriell=GM25492).
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 1Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM25492
Encyclopedic resources Wikidata; Q127380899
Entry history
Entry creation30-Jan-2024
Last entry update19-Dec-2024
Version number3