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Cellosaurus GM20737 (CVCL_0N32)

[Text version]
Cell line name GM20737
Accession CVCL_0N32
Resource Identification Initiative To cite this cell line use: GM20737 (RRID:CVCL_0N32)
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.Arg347His (c.1040G>A); ClinVar=VCV000007182; Zygosity=Heterozygous (PubMed=19359498).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 27Y
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; GM20737
Cell line databases/resources CLO; CLO_0028996
Encyclopedic resources Wikidata; Q54851242
Entry history
Entry creation10-Apr-2015
Last entry update29-Jun-2023
Version number13