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Abstract：
Human pluripotent stem cells (PSCs) generated from affected blastocysts or from patient-derived somatic cells are an emerging platform for disease modeling and drug discovery. Fragile X syndrome (FXS), the leading cause of inherited intellectual disability, was one of the first disorders modeled in both embryonic stem cells and induced PCSs and can serve as an exemplary case for the utilization of human PSCs in the study of human diseases. Over the past decade, FXS-PSCs have been used to address the fundamental questions regarding the pathophysiology of FXS. In this review we summarize the methodologies for generation of FXS-PSCs, discuss their advantages and disadvantages compared with existing modeling systems and describe their utilization in the study of FXS pathogenesis and in the development of targeted treatment.
摘要：
从受影响的胚泡或从患者来源的体细胞产生的人多能干细胞(PSC)是用于疾病建模和药物发现的新兴平台。脆性X综合征（FXS），遗传性智力残疾的主要原因，是在胚胎干细胞和诱导的PCSs中建模的首批疾病之一，并且可以作为在人类疾病研究中利用人类PSC的示例性病例。在过去的十年里，FXS-PSC已用于解决关于FXS的病理生理学的基本问题。在这篇综述中，我们总结了FXS-PSC的生成方法，讨论它们与现有建模系统相比的优缺点，并描述它们在FXS发病机制研究和靶向治疗开发中的应用。
