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Cellosaurus GM20172 (CVCL_GS89)

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Cell line name GM20172
Accession CVCL_GS89
Resource Identification Initiative To cite this cell line use: GM20172 (RRID:CVCL_GS89)
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=Homozygous (Coriell=GM20172).
Disease Deafness, autosomal recessive 49 (NCIt: C129024)
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
Publications

PubMed=17186462; DOI=10.1086/510022; PMCID=PMC1698716
Saima Riazuddin, Zubair M. Ahmed, Alan S. Fanning, Ayala Lagziel, Shin-ichiro Kitajiri, Khushnooda Ramzan, Shaheen N. Khan, Parna Chattaraj, Penelope L. Friedman, James M. Anderson, Inna A. Belyantseva ...Show all 14 authors... , Andrew Forge, Sheikh Riazuddin, Thomas B. Friedman; Show fewer authors
Tricellulin is a tight-junction protein necessary for hearing.
Am. J. Hum. Genet. 79:1040-1051(2006)

Cross-references
Cell line collections (Providers) Coriell; GM20172
Cell line databases/resources CLO; CLO_0027932
Encyclopedic resources Wikidata; Q54850818
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number12