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Cellosaurus GM25493 (CVCL_D2YN)

[Text version]
Cell line name GM25493
Accession CVCL_D2YN
Resource Identification Initiative To cite this cell line use: GM25493 (RRID:CVCL_D2YN)
Comments Population: Southeast Asian; Filipino.
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.Gly4Asp (c.11G>A); ClinVar=VCV000044724; Zygosity=Homozygous (Coriell=GM25493).
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 8Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM25493
Encyclopedic resources Wikidata; Q127380900
Entry history
Entry creation30-Jan-2024
Last entry update19-Dec-2024
Version number3