Generation of an induced pluripotent stem cell line (MHHi018-A) from a patient with Cystic Fibrosis carrying p.Asn1303Lys (N1303K) mutation
Stem Cell Research , Volume 44
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|
|Organisation||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