Fig. 2From: KIAA0556 is a novel ciliary basal body component mutated in Joubert syndromePatient-derived fibroblasts carrying a KIAA0556 nonsense mutation show ciliogenesis defects. a Quantification of ciliogenesis potential and length of cilia shows significant reduction of ciliated cells and longer cilia in patient cells compared with control (***p < 0.0001 (two tailed t-test); 100 cells counted in each sample). Cilia were stained using an acetylated tubulin (AcTub) antibody. b Box and whisker plot indicating a much wider range of ciliary lengths in patient cells compared with control. Representative images showed decreased ciliogenesis potential (c) and increased ciliary length (d) in KIAA0556 cells from one of the patientsBack to article page