• Mutation; HGNC; 1884; CFTR; Simple; p.Gly551Asp (c.1652G>A); ClinVar=VCV000007120; Zygosity=Heterozygous (PubMed=19359498).
  

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=14709668; DOI=10.1373/clinchem.2003.028068
Sebastian S., Spitzer S.G., Grosso L.E., Wilson J.A., Schaefer F.V., Lyon E., Wolff D.J., Hajianpour A., Taylor A.K., Millson A., Stenzel T.T.
Multicenter characterization and validation of the intron-8 poly(T) tract (IVS8-T) status in 25 Coriell cell repository cystic fibrosis reference cell lines for cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation assays.
Clin. Chem. 50:251-254(2004)

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)