Extended Data Fig. 3: Amyotrophic lateral sclerosis associated variant SPTLC1 cellular localization.
From: Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis
a, Immunostaining for SPTLC1 in patient derived fibroblast cultures shows normal subcellular localization in these cells, with an apparent distribution in the endoplasmic reticulum. Immunostaining for TDP43 also appears normal. Scale bar=40 μm b, Immunostaining for SPTLC1 in iPSC-derived human motor neurons with p.F40_S41 variant do not show any changes in its subcellular localization. Scale bar=20 μm c, Western blot of SPTLC1 in iPSC-derived human motor neurons confirms comparable expression levels in p.F40_S41 line and its isogenic control. Two independent differentiation experiments followed by western blotting were performed with similar results.
