Article
Organoids as a personalized medicine tool for ultra-rare mutations in cystic fibrosis: The case of S955P and 1717-2A>G.
Biochimica et biophysica acta. Molecular basis of disease - 1 Nov 2020
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
Abstract excerpt
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: Patient-derived rectal...
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