Cystic Fibrosis (CF) is a genetic disease caused by mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene which encodes for a chloride ion channel regulating the balance of salt and water across secretory epithelia. Here we generated an iPSC line from a CF patient homozygous for the p.Asn1303Lys mutation, a Class II folding defect mutation. This iPSC line provides a useful resource for disease modeling and to investigate the pharmacological response to CFTR modulators in iPSC derived epithelia.,
Stem Cell Research
Department of Pediatrics

Merkert, S. (Sylvia), Schubert, M. (Madline), Haase, A. (Alexandra), Janssens, H.M, Scholte, B.J, Lachmann, N. (Nico), … Martin, U. (Ulrich). (2020). Generation of an induced pluripotent stem cell line (MHHi018-A) from a patient with Cystic Fibrosis carrying p.Asn1303Lys (N1303K) mutation. Stem Cell Research, 44. doi:10.1016/j.scr.2020.101744