《生命科学》 2015, 27(1): 83-92

基因组编辑技术在干细胞疾病模型和疾病治疗中的应用

刘改改，李　爽，张永贤，丁秋蓉*

(中国科学院上海生命科学研究院营养科学研究所，上海 200031)

摘　要：摘　要：基于人类多能干细胞(human pluripotent stem cells， hPSCs) 的疾病模拟体系提供了一个全新的疾病研究平台。携带特定致病突变的hPSCs 可以通过患者体细胞重编程成诱导性多能干细胞(induced pluripotent stem cells， iPSCs) 获得，或者通过向野生型hPSCs 中引入致病突变获得。获得的突变hPSCs及其野生型对照细胞株在体外诱导下可以分化为疾病相关体细胞类型，继而被用于疾病模拟和机理研究。近几年出现的基因组编辑技术使得疾病模拟平台的建立更加高效和优化。主要讨论干细胞疾病模拟领域的进展，以及基因组编辑技术在干细胞疾病模拟和疾病治疗中的应用。

Genome editing for disease modeling and disease treatment

LIU Gai-Gai， LI Shuang， ZHANG Yong-Xian， DING Qiu-Rong*

(Institute for Nutritional Sciences， Shanghai Institutes for Biological Sciences， Shanghai 200031， China)

Abstract: Abstract: Disease modeling with human pluripotent stem cells (hPSCs) has offered a new platform to study human diseases. Mutant hPSCs can be generated either by reprograming of patients’ somatic cells to get inducible pluripotent stem cells (iPSCs)， or by introducing genetic variants into wild-type hPSCs. The emergence of genomeediting technology over the past few years has made it feasible to generate isogenic cell lines with and without disease mutations more efficiently， which can then be differentiated into somatic cell types for the study of pathophysiology of diseases. In this review， recent advances in disease modeling and the use of genome editing to better understand human biology and develop novel therapeutics are discussed.