Fig. 1.

SPTLC1 mutations cause no change to gross morphology but yield increased lipid droplets. a Representative bright field micrographs showing gross morphology of health control and patient-derived lymphoblasts. b Representative confocal micrographs showing Nile red-stained lipid droplets (red) and DAPI nuclear stain (blue). Scale bar = 20 μm. c Fluorescence spectroscopy of the Nile red-stained lipid droplets in patient-derived lymphoblasts (n = 5 separate experiments). Plus symbol = oleic acid treatment; minus symbol = no oleic acid treatment. Asterisk indicates p < 0.05, relative to control (−)