Sialidosis type I patient-derived induced pluripotent stem cells (iPSCs) were generated from blood mononuclear cells. During embryoid body-like 3D culture, aggregates of patient-derived iPSCs were irregular in shape and had increased vacuoles filled with lipid droplets and cellular components such as damaged mitochondria. Retinal pigment epithelial cells induced from patient-derived iPSCs showed impaired autophagy flux with decreased formation of LC3 puncta. Sialidosis patient-derived iPSCs could provide a useful tool for investigating the mechanism of the autophagy/ lysosome-mediated degradation system.

No abstract