Clinical and molecular characterisation of the R751L-CFTR mutation
Short circuit current responses in F508del/R751L, F508del/F508del and non-CF paediatric human bronchial epithelial cultures.
A) Representative short circuit current (Isc) responses to amiloride, forskolin and CFTRinh-172 were measured using Ussing chamber experiments in F508del/R751L, non-CF and F508del/F508del air liquid interface paediatric human bronchial epithelial cultures (HBEs). Lines indicate reagent addition to the apical Ussing chamber. The dashed line indicates the baseline Isc prior to forskolin addition.
B) Comparative assessment of Isc showed greater responses to forskolin and CFTRinh-172 in non-CF compared with F508del/R751L HBEs. F508del/R751L HBEs demonstrated the smallest response to amiloride. Data presented as mean (SD) responses for each donor, analysed using unpaired t test, * P < 0.05. n = 1 F508del/R751L donor; n = 5 non-CF donors; n = 3 F508del/F508del donors for each panel.