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Organoids as a personalized medicine tool for ultra-rare mutations in cystic fibrosis: The case of S955P and 1717-2A>G

Silva, Iris A.L. ; Doušová, Tereza ; Ramalho, Sofia ; Centeio, Raquel ; Clarke, Luka A. ; Railean, Violeta ; Botelho, Hugo M. ; Holubová, Andrea ; Valášková, Iveta ; Yeh, Jiunn-Tyng ; Hwang, Tzyh-Chang ; Farinha, Carlos M. ; Kunzelmann, Karl ; Amaral, Margarida D.


Background: For most of the > 2000 CFTR gene variants reported, neither the associated disease liability nor the underlying basic defect are known, and yet these are essential for disease prognosis and CFTR-based therapeutics. Here we aimed to characterize two ultra-rare mutations - 1717-2A > G (c.1585-2A > G) and S955P (p.Ser955Pro) - as case studies for personalized medicine. Methods: ...


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