Generation of an induced pluripotent stem cell line (MHHi018-A) from a patient with Cystic Fibrosis carrying p.Asn1303Lys (N1303K) mutation
Summary
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. Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Merkert S, Schubert M, Haase A, Janssens HM, Scholte B, Lachmann N, Göhring G, Martin U |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2020 Apr;44:101744 |
| PubMed | 32220772 |
| DOI | 10.1016/j.scr.2020.101744 |