• Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Arg170His (c.509G>A); ClinVar=VCV000053983; Zygosity=Heterozygous (Coriell=GM03469).
  

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=16244288; DOI=10.1373/clinchem.2005.048686
Susan H. Bernacki, Jeanne C. Beck, Kasinathan Muralidharan, Frederick V. Schaefer, Antony E. Shrimpton, Kristy L. Richie, Barbara C. Levin, Genevieve Pont-Kingdon, Timothy T. Stenzel;
Characterization of publicly available lymphoblastoid cell lines for disease-associated mutations in 11 genes.
Clin. Chem. 51:2156-2159(2005)

PubMed=23665875; DOI=10.1534/g3.113.006577; PMCID=PMC3704242
Zhen-Ya Tang, Dorit S. Berlin, Lorraine H. Toji, Gokce Altay Toruner, Christine M. Beiswanger, Shashikant Kulkarni, Christa Lese Martin, Beverly S. Emanuel, Michael Christman, Norman P. Gerry;
A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds.
G3 (Bethesda) 3:1143-1149(2013)