| 摘要 |
<p>The present invention relates to an induced pluripotent stem cell (iPSC) model for Fabry disease, a preparation method therefor, and a use using the iPSC model in the study of the pathogenesis of Fabry disease and in a method for screening for a Fabry disease therapeutic agent. Specifically, by inducing the creation and differentiation of Fabry disease-derived iPSCs, embryoid bodies (EBs), and vascular cells from fibroblasts of a patient with Fabry disease and confirming the accumulation of globotriaosylceramide (Gb3, CD77) since the expression and activity of GLA protein are significantly reduced in the Fabry disease-derived iPSCs compared with normal cells, and when significantly expressing a marker protein by the differentiation of the Fabry disease-derived iPSCs into vascular endothelial cells and vascular smooth muscle cells as a result of the induced differentiation from the Fabry disease-derived iPSCs into the vascular cells and treating the vascular endothelial cells and the vascular smooth muscle cells with fabrazyme, thereby significantly reducing the accumulation of Gb3, the iPSC model can be usefully used in analytical research for the pathogenic mechanism of Fabry disease and in analytical research for a method for screening for a Fabry disease therapeutic agent.</p> |
