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Figure 5 | Orphanet Journal of Rare Diseases

Figure 5

From: Niemann-Pick type C1 patient-specific induced pluripotent stem cells display disease specific hallmarks

Figure 5

Cholesterol accumulation in fibroblasts, hiPSCs, and neural progenitor cells. Cholesterol accumulation is one of the hallmarks of NPC1 disease. Filipin stainings of fibroblast (A,B, shown in blue) are used for diagnostics, where fibroblasts of NPC1 patients with a “classic” biochemical phenotype demonstrate a clear perinuclear accumulation (A) in contrast to fibroblasts of an unaffected individual (B). These differences were found in hiPSCs (C,D) and neural progenitor cells (hNPCs, E,F) derived from mutNPC1 and wtNPC1 fibroblasts. (scale bar = 100 μm). A quantification of the amount of cholesterol (G) in fibroblasts, iPSCs, and hNPCs revealed elevated cholesterol levels in mutNPC1 cell lines (black bars) in contrast to wtNPC1 cell lines (white bars). The total amount differed slightly between the cell lines but the relative proportion was comparable.

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