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Cellosaurus GM20196 (CVCL_DB98)

[Text version]
Cell line name GM20196
Accession CVCL_DB98
Resource Identification Initiative To cite this cell line use: GM20196 (RRID:CVCL_DB98)
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+2T>C (IVS4+2T>C) (p.Cys395fs*403); ClinVar=VCV000001197; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM20196).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 38Y
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; GM20196
Cell line databases/resources CLO; CLO_0027984
Encyclopedic resources Wikidata; Q54850836
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number14