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. 2017 Sep 11;26(23):4657–4667. doi: 10.1093/hmg/ddx347

Figure 2.

Figure 2.

Renal epithelial cilia derived from a patient with CEP290 mutations demonstrate length and morphological defects. (A and B) Wild type and patient JBTS II: 2 hURECs form a typical cobblestone epithelial cell layer when grown in 2D culture (Scale bar 100 µm). (C and D) Wild type and patient JBTS II: 2 hURECs following immunofluorescence imaging using anti-ARL13B (green) to identify ciliary membrane and DAPI to identify nuclei. (Scale bar 50 µm). (E and F) Scanning electron microscopy (SEM) images reveal abnormally long cilia in patient JBTS II: 2 cells with distal tip anomalies (Scale bar 2 µm). (G and H) Immunofluorescence staining using anti-alpha-acetylated tubulin (red) to identify axoneme and anti-ARL13B (green) to identify ciliary membrane in wild type and JBTS II: 2 cells (Scale bar 5um). (I) Dot plot with means (4.7 versus 7.7 µm) to show ciliary length measured by SEM. (n = 10 for each group, *P < 0.05, Unpaired Student’s t-test). (J) Dot plots with means indicated to show ciliary length measured by immunofluorescence imaging using antibodies against alpha-acetylated tubulin (Acet Tub) and ARL13B. (n = 49 for WT cilia and n = 49 for II: 2 cilia, *P < 0.0001, Unpaired Student’s t-test). (K) Dot plots with means indicated to show the increase in cilia length of each cilia (data from panel j) as determined by measuring axonemal length under immunofluorescence imaging using antibodies against alpha-acetylated tubulin (Acet Tub) and ARL13B. (*P < 0.0001, Unpaired Student’s t-test).