Generation of two iPSC lines carrying two cystic fibrosis rare intronic mutations c.1585-1G>A and c.1680-886A>G in the CFTR gene of the parental line PCIi033-A using CRISPR/Cas tools
Summary
CFTR gene mutations are responsible for Cystic Fibrosis. For half a decade, a triple therapy has been available for patients carrying the most frequent mutation: p.F508del. Among classified mutations, intronic mutations are rare, and no therapeutic strategies have yet been developed for such patients. We genome edited the parental iPSC line PCIi033-A to introduce two intronic mutations: A.s.Cas12a for c.1585-1G>A (PCIi033-A-8) and SpCas9 for c.1680-886A>G (PCIi033-A-9). Both cell lines have normal morphology and karyotype, conserved pluripotency, and differentiate into the three germ layers. Obtaining iPSC-derived mutant lung epithelia would be an efficient tool for testing new therapeutic strategies. Copyright © 2026 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Simonneau B, Baghdoyan S, Cailleret M, Simon S, Ruckebusch O, Vrablikova B, Giraud-Triboult K, Kassar LE, Fanen P, Duriez B |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2026 May 18;94:104016 |
| PubMed | 42166840 |
| DOI | 10.1016/j.scr.2026.104016 |