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

我们致力于从各种遗传性疾病患者的体细胞中培养出iPS细胞，并诱导这些iPS细胞适当分化为病变器官的细胞，从而阐明疾病的病因和发病机制。我们用传统的逆转录病毒方法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、先天性巨结肠患者中分离出了疾病特异性的iPS细胞。我们在皮肤成纤维细胞阶段没有收集基因的情况下，未能从Fanconi贫血和网状发育不全的患者中产生iPS细胞。我们已经证实了几种疾病特异性iPS细胞的表型重现，包括CINCA综合征、网状发育不全和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.