Evaluation of the response to elexacaftor-tezacaftor-ivacaftor of the rare CFTR variants L383S, I507del, L1065P and R1066H in intestinal organoid-derived epithelial monolayers

Abstract excerpt

INTRODUCTION: Cystic fibrosis (CF) is caused by mutation of the CFTR gene, encoding an epithelial anion channel. Here we evaluated the effect of the modulator combination elexacaftor-tezacaftor-ivacaftor (ETI) on the function of four rare, poorly characterized CFTR variants: L383S, I507del, L1065P and R1066H. METHODS: Intestinal organoids were obtained from subjects carrying the CFTR variants L383S, I507del,...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cystic Fibrosis Research Advances
• Share to Ion Transport and Channel Regulation
• Share to Neonatal Respiratory Health Research