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Cellosaurus GM20171 (CVCL_HQ11)

[Text version]
Cell line name GM20171
Accession CVCL_HQ11
Resource Identification Initiative To cite this cell line use: GM20171 (RRID:CVCL_HQ11)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:4893; HGF; Simple; c.482+1986_1988delTGA; Zygosity=Homozygous (Coriell=GM20171).
Disease Deafness, autosomal recessive 39 (NCIt: C129874)
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 17Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM20171
Encyclopedic resources Wikidata; Q54850817
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number10