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 Sp Cas9 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.
Simonneau et al. (Fri,) studied this question.