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Cellosaurus GM20173 (CVCL_CZ76)

[Text version]
Cell line name GM20173
Accession CVCL_CZ76
Resource Identification Initiative To cite this cell line use: GM20173 (RRID:CVCL_CZ76)
Comments Population: Pakistani.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:26401; MARVELD2; Simple; c.1331+4_1331+7delAGTG (IVS4+2delTGAG) (p.Lys445fs*461); ClinVar=VCV000001196; Zygosity=Heterozygous (Coriell=GM20173).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 60Y
Category Transformed cell line
Publications

PubMed=17186462; DOI=10.1086/510022; PMCID=PMC1698716
Riazuddin S., Ahmed Z.M., Fanning A.S., Lagziel A., Kitajiri S.-i., Ramzan K., Khan S.N., Chattaraj P., Friedman P.L., Anderson J.M., Belyantseva I.A., Forge A., Riazuddin S., Friedman T.B.
Tricellulin is a tight-junction protein necessary for hearing.
Am. J. Hum. Genet. 79:1040-1051(2006)

Cross-references
Cell line collections (Providers) Coriell; GM20173
Cell line databases/resources CLO; CLO_0027933
Encyclopedic resources Wikidata; Q54850819
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number12