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. 2018 Apr 26;102(5):816–831. doi: 10.1016/j.ajhg.2018.03.014

Figure 3.

Figure 3

Proband Organoid Tubules Demonstrate Abnormal Cilia, which Are Rescued by Gene Correction

(A) Cilia of CDH1+ tubular epithelial cells demonstrate classical morphology associated with defective retrograde IFT: short with swollen ciliary tips (left and middle panels; scale bars, 2 μm). Individual cilia were isolated from these images (right panels; scale bars, 500 nm) and shuffled for blinded scoring of morphology.

(B) Quantitative output of blinded cilia-morphology analysis demonstrates predominantly clubbed cilia in PR organoids (59%) and predominant wild-type morphology in gene-corrected cilia (61%) (n = 900; p < 0.0001, Chi-square test).

(C) PR cilia were shorter than GC cilia at every culture time point, such that an increasing difference was noted with time in culture (n = 600 cilia per condition; p < 0.0001, Welch’s t test; error bars represent the mean + 95% CI).

(D) IFT components IFT140, WDR19, and IFT88 were all found to accumulate in the PR ciliary tip. Gene-corrected organoids displayed a wild-type distribution (scale bar, 1 μm).