• Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Homozygous (PubMed=15463957).
  

PubMed=7682954; DOI=10.1111/j.1365-2362.1993.tb00754.x
Lemnaouar M., Chastre E., Paul A., Mergey M., Veissiere D., Cherqui G., Barbry P., Simon-Bouy B., Fanen P., Gespach C., Picard J.
Oncogene-mediated propagation of tracheal epithelial cells from two cystic fibrosis fetuses with different mutations. Characterization of CFT-1 and CFT-2 cells in culture.
Eur. J. Clin. Invest. 23:151-160(1993)

PubMed=7689916
Picard J., Lemnaouar M., Paul A.
Cellular expression of CFTR in cystic fibrosis: defective cyclic AMP-dependent regulation of glycoconjugate secretion in cystic fibrosis fetal tracheal epithelial cells transfected by SV40 large T oncogene.
Bull. Acad. Natl. Med. 177:383-394(1993)

PubMed=12000003; DOI=10.1053/rmed.2001.1257
Amsellem C., Durieu I., Chamb M.-T., Peyrol S., Pacheco Y.S.
In vitro expression of fas and CD40 and induction of apoptosis in human cystic fibrosis airway epithelial cells.
Respir. Med. 96:244-249(2002)

PubMed=15463957; DOI=10.1016/j.jcf.2004.05.040
Gruenert D.C., Willems M., Cassiman J.-J., Frizzell R.A.
Established cell lines used in cystic fibrosis research.
J. Cyst. Fibros. 3:191-196(2004)