• 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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PubMed=1380129; DOI=10.1038/358581a0
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PubMed=7679117; DOI=10.1016/S0021-9258(18)53762-5
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PubMed=15463957; DOI=10.1016/j.jcf.2004.05.040
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Established cell lines used in cystic fibrosis research.
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PubMed=16512671; DOI=10.1021/pr050319o
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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
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Cell culture models demonstrate that CFTR dysfunction leads to defective fatty acid composition and metabolism.
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