Generation of two iPSC lines each carrying a stop codon mutation, c.366T > A (p.Y122X) and c.1657C > T (p.R553X), in the CFTR gene from the parental line PCIi033-A using CRISPR/Cas9.

Abstract excerpt

Cystic fibrosis is a recessive genetic disease due to mutations in the CFTR gene. Approximately 80% of patients carry the CFTR-F508del mutation and may benefit from the triple therapy Kaftrio®. However, patients with other rare mutations that prevent the production of the CFTR protein, such as nonsense mutations, have no available treatments. With CRISPR/Cas tools, we generate two iPSC lines bearing stop-codon...

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• Base Sequence
• Cell Differentiation
• Cell Line
• Codon, Terminator