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Cellosaurus GM20741 (CVCL_0N33)

[Text version]
Cell line name GM20741
Accession CVCL_0N33
Resource Identification Initiative To cite this cell line use: GM20741 (RRID:CVCL_0N33)
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; HGNC:1884; CFTR; Simple; p.Lys1250Argfs*9 (c.3744delA) (3876delA); ClinVar=VCV000007231; Zygosity=Heterozygous (PubMed=19359498).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 21Y
Category Transformed cell line
Publications

PubMed=19359498; DOI=10.2353/jmoldx.2009.080149; PMCID=PMC2671335
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; GM20741
Cell line databases/resources CLO; CLO_0028989
Encyclopedic resources Wikidata; Q54851244
Entry history
Entry creation10-Apr-2015
Last entry update19-Dec-2024
Version number15