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Cellosaurus GM20745 (CVCL_0N34)

[Text version]
Cell line name GM20745
Accession CVCL_0N34
Resource Identification Initiative To cite this cell line use: GM20745 (RRID:CVCL_0N34)
Comments Part of: Genetic Testing Reference Material (GeT-RM) samples.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 1884; CFTR; Simple; p.Ser549Asn (c.1646G>A); ClinVar=VCV000007116; Zygosity=Heterozygous (PubMed=19359498).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 47Y
Category Transformed cell line
Publications

PubMed=19359498; DOI=10.2353/jmoldx.2009.080149
Pratt V.M., Caggana M., Bridges C., Buller-Burckle A.M., DiAntonio L., Highsmith W.E. Jr., Holtegaard L.M., Muralidharan K., Rohlfs E.M., Tarleton J.C., Toji L.H., Barker S.D., Kalman L.V.
Development of genomic reference materials for cystic fibrosis genetic testing.
J. Mol. Diagn. 11:186-193(2009)

Cross-references
Cell line collections (Providers) Coriell; GM20745
Cell line databases/resources CLO; CLO_0029028
Encyclopedic resources Wikidata; Q54851248
Entry history
Entry creation10-Apr-2015
Last entry update29-Jun-2023
Version number13