• Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (PubMed=15463957).
  
• Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Trp1282Ter (c.3846G>A); ClinVar=VCV000007129; Zygosity=Heterozygous (PubMed=15463957).
  

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A cystic fibrosis bronchial epithelial cell line: immortalization by adeno-12-SV40 infection.
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Nature 358:581-584(1992)

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Dieter C. Gruenert, Marjolaine Willems, Jean-Jacques Cassiman, Raymond A. Frizzell;
Established cell lines used in cystic fibrosis research.
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Om V. Singh, Neeraj Vij, Peter Joseph Mogayzel Jr., Catherine Edith Jozwik, Harvey B. Pollard, Pamela L. Zeitlin;
Pharmacoproteomics of 4-phenylbutyrate-treated IB3-1 cystic fibrosis bronchial epithelial cells.
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PubMed=18441018; DOI=10.1194/jlr.M700388-JLR200; PMCID=PMC2444007
Charlotte Andersson, M. Rabie Al-Turkmani, Juanito E. Savaille, Ragheed Alturkmani, Waddah Katrangi, Joanne E. Cluette-Brown, Munir M. Zaman, Michael Laposata, Steven D. Freedman;
Cell culture models demonstrate that CFTR dysfunction leads to defective fatty acid composition and metabolism.
J. Lipid Res. 49:1692-1700(2008)