Fig. 2

Cellular morphology and analysis of JBTS10 skin fibroblasts. a Co-localization analysis of OFD1 (magenta) signals in proband, proband rescued, and adult WT cells with ɣ-tubulin (red) and PCM1 (green). Inset higher magnification of the region outlined with dotted lines. b Immunofluorescence staining for OFD1 (green) and α-tubulin (red) in fibroblasts of the proband (UDP-3331), proband rescued (UDP-3331 + OFD1), and adult WT control. c Comparison of endoplasmic reticulum structure (KDEL, green) in UDP-3331 and WT cells. d Comparison of the cis- (GM-130, green) and trans- (TGN-46, red) Golgi in UDP-3331 and WT cells. DNA was stained with Hoechst 33,342 (blue). All scale bars represent 20 µm