Establishment of hepatic and neural differentiation platforms of Wilson’s disease specific induced pluripotent stem cells

作     者：Fei Yi Jing Qu Mo Li Keiichiro Suzuki Na Young Kim Guang-Hui Liu Juan Carlos Izpisua Belmonte 

作者机构：Gene Expression LaboratorySalk Institute for Biological Studies10010 North Torrey Pines RoadLa JollaCA 92037USA National Laboratory of BiomacromoleculesInstitute of BiophysicsChinese Academy of SciencesBeijing 100101China Center for Regenerative Medicine in BarcelonaDr.Aiguader 8808003 BarcelonaSpain 

出 版 物：《Protein & Cell》 (蛋白质与细胞（英文版）)

年 卷 期：2012年第3卷第11期

页      面：855-863页

核心收录：

学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学] 

基　　金：supported by Sanofi-Aventis,The Helmsley Charitable Trust and The Ellison Medical Foundation supported by"Thousand Young Talents"program of China National Laboratory of Biomacromolecules,Strategic Priority Research Program of the Chinese Academy of Sciences a CIRM training grant fellowship(No.TG2-01158) a Glenn foundation grant partially supported by an AFAR/Ellison Medical Foundation postdoctoral fellowship 

主　　题：induced pluripotent stem cell Wilson’s disease hepatocyte neural stem cell neuron 

摘      要：The combination of disease-specific human induced pluripotent stem cells(iPSC)and directed cell differentiation offers an ideal platform for modeling and studying many inherited human ***’s disease(WD)is a monogenic disorder of toxic copper accumulation caused by pathologic mutations of the ATP7B *** affects multiple organs with primary manifestations in the liver and central nervous system(CNS).In order to better investigate the cellular pathogenesis of WD and to develop novel therapies against various WD syndromes,we sought to establish a comprehensive platform to differentiate WD patient iPSC into both hepatic and neural *** we report the generation of patient iPSC bearing a Caucasian population hotspot mutation of *** with directed cell differentiation strategies,we successfully differentiated WD iPSC into hepatocyte-like cells,neural stem cells and *** expression analysis and cDNA sequencing confirmed the expression of the mutant ATP7B gene in all differentiated *** we established a platform for studying both hepatic and neural abnormalities of WD,which may provide a new tool for tissue-specific disease modeling and drug screening in the future.