• Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Phe508Cys (c.1523T>G); ClinVar=VCV000007126; Zygosity=Heterozygous; Note=Benign (PubMed=19359498).
  

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; 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)

PubMed=20889555; DOI=10.2353/jmoldx.2010.100090; PMCID=PMC2962854
Pratt V.M., Zehnbauer B.A., Wilson J.A., Epstein-Baak R., Babic N., Bettinotti M.P., Buller-Burckle A.M., Butz K.G., Campbell M., Civalier C., El-Badry A., Farkas D.H., Lyon E., Mandal S., McKinney J., Muralidharan K., Noll L., Sander T., Shabbeer J., Smith C.-Y.H., Telatar M., Toji L.H., Vairavan A., Vance C., Weck K.E., Wu A.H.B., Yeo K.-T.J., Zeller M., Kalman L.V.
Characterization of 107 genomic DNA reference materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1: a GeT-RM and Association for Molecular Pathology collaborative project.
J. Mol. Diagn. 12:835-846(2010)

PubMed=29959025; DOI=10.1016/j.jmoldx.2018.05.009; PMCID=PMC6939753
Bettinotti M.P., Ferriola D., Duke J.L., Mosbruger T.L., Tairis N., Jennings L., Kalman L.V., Monos D.S.
Characterization of 108 genomic DNA reference materials for 11 human leukocyte antigen loci: a GeT-RM collaborative project.
J. Mol. Diagn. 20:703-715(2018)