• Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (PubMed=19359498).
  
• Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Arg553Ter (c.1657C>T); ClinVar=VCV000007122; Zygosity=Heterozygous (PubMed=19359498).
  

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

PubMed=14709668; DOI=10.1373/clinchem.2003.028068
Siby Sebastian, Silvia G. Spitzer, Leonard E. Grosso, Jean Amos Wilson, Frederick V. Schaefer, Elaine Lyon, Daynna J. Wolff, Atieh Hajianpour, Annette K. Taylor, Alison Millson, Timothy T. Stenzel;
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
Victoria M. Pratt, Michele Caggana, Christina Bridges, Arlene M. Buller-Burckle, Lisa DiAntonio, William Edward Highsmith Jr., Leonard M. Holtegaard, Kasinathan Muralidharan, Elizabeth M. Rohlfs, Jack C. Tarleton, Lorraine H. Toji ...Show all 13 authors... , Shannon D. Barker, Lisa V. Kalman; Show fewer authors
Development of genomic reference materials for cystic fibrosis genetic testing.
J. Mol. Diagn. 11:186-193(2009)