Recapitulation of phenotypes and discovery of a novel treatment with disease-specific human ES/ iPS cells from various hereditary diseases

本课题组致力于从各种遗传性疾病患者的体细胞中诱导产生iPS细胞，并诱导这些iPS细胞向病变器官的细胞适当分化，从而阐明疾病的病因和机制。我们成功地从先天性中性粒细胞减少症、Duchenne肌营养不良症、CINCA综合征、Nakajyo-Nishimura综合征、脊髓性肌萎缩症、Chediak-Higashi综合征、先天性巨结肠症患者中，通过常规逆转录病毒方法产生疾病特异性iPS细胞。我们未能从患有范可尼贫血和网状细胞发育不全的患者产生iPS细胞，而没有在皮肤成纤维细胞阶段进行基因收集。我们已经证实了几种疾病特异性iPS细胞的表型重演，包括CINCA综合征，网状细胞发育不全和Chediak-Higashi综合征。

We were engaged in research to generate iPS cells from somaticcells of patients with various hereditary diseases, induced these iPS ells to differentiate appropriately into the cells the diseased organs,and thereby elucidate the etiology and the mechanisms of the diseases. We succeeded the generation of disease-specific iPS cells from patients with congenital neutropenia, Duchenne muscular dystrophy, CINCA syndrome, Nakajyo-Nishimura syndrome, spinal muscular atrophy, Chediak-Higashi syndrome, Hirschsprung disease by using conventional retroviral method. We failed to generate iPS cells from patients with Fanconi Anemia and reticular dysgenesis without gene collection at the stage of skin fibroblasts. We have confirmed recapitulation of phenotypes with several disease-specific iPS cells including CINCA syndrome, reticular dysgenesis and Chediak-Higashi syndrome.