Human pluripotent stem cells in modeling human disorders: The case of fragile X syndrome

Dan Vershkov, Nissim Benvenisty*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

4 Scopus citations

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.

Original languageAmerican English
Pages (from-to)53-68
Number of pages16
JournalRegenerative Medicine
Volume12
Issue number1
DOIs
StatePublished - Jan 2017

Bibliographical note

Publisher Copyright:
© 2017 Future Medicine Ltd.

Keywords

  • disease modeling
  • drug discovery
  • embryonic stem cells
  • fragile X syndrome
  • human pluripotent stem cells
  • neural differentiation

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