Article
Targeted locus amplification reveals heterogeneity between and within CFTR genotypes and association with CFTR function in patient-derived intestinal organoids.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 May 2023
Lefferts J W, Boersma V, Nieuwenhuijze N D A, Suen S W F, Hajo K, Collantes N Sanchez, Vermeulen C, Groeneweg T, Hagemeijer M C, de Jonge H R, van der Ent C K, Splinter E, Beekman J M
Abstract excerpt
BACKGROUND: Cystic fibrosis (CF) disease severity can be highly variable, even between people with CF (pwCF) with similar genotypes. Here we use patient-derived intestinal organoids to study the influence of genetic variation within the cystic fibrosis transmembrane conductance regulator (CFTR) gene on CFTR function. METHODS: Organoids of F508del/class I, F508del/S1251N and pwCF with only one detected CF-causing...
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