Exploration of treatment of hereditary vascular dementia CADASIL using patient-derived iPS cells and its model mice

从3例Notch 3基因不同突变的CADASIL患者中分离出皮肤成纤维细胞。用1例CADASIL患者的成纤维细胞建立了3个iPS细胞系，并从iPS细胞中诱导出内皮细胞和血管平滑肌细胞。并将其表型与正常对照组进行比较。此外，还获得了Notch 3转基因小鼠，用于研究CADASIL的体内发病机制，并比较其体内外表型。

Skin fibroblasts were isolated from three CADASIL patients with different mutations in Notch 3 gene. Three lines of iPS cells have been established by using the fibroblasts derived from one patient with CADASIL and endothelial cells and vascular smooth muscle cells were induced from the iPS cells. Their phenotypes were compared with those derived from normal controls. Furthermore, Notch 3 transgenic mice were obtained to investigate the pathogenesis of CADASIL in vivo and to compare the in vitro and in vivo phenotypes.