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

Key Points

• This research aims to generate induced pluripotent stem cell (iPSC) lines carrying rare intronic mutations in the CFTR gene for therapeutic exploration.
• Genome editing of parental iPSC line PCIi033-A using CRISPR/Cas tools, specifically A.s. Cas12a and Sp Cas9.
• Introduction of two specific intronic mutations: c.1585-1G>A and c.1680-886A>G.
• Validation of cell lines for morphology, karyotype, pluripotency, and differentiation potential into three germ layers.
• Both mutant iPSC lines maintain normal morphology and karyotype.
• iPSC lines exhibit conserved pluripotency and successfully differentiate into three germ layers.
• iPSC-derived mutant lung epithelia are proposed as a valuable tool for developing new therapeutic strategies.