Modeling Fragile X Syndrome Using Human Pluripotent Stem Cells

Dan Vershkov*, Tamir Ben-Hur, Nissim Benvenisty

*Corresponding author for this work

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

2 Scopus citations


The unique genetic, epigenetic, and cellular alterations involved in the pathogenesis of fragile X syndrome (FXS) present a significant challenge for the modeling of this disorder. Although animal models have been useful in the study of FXS, their failure to recapitulate the CGG expansion-mediated silencing of the FMR1 gene prompted the development of human based in vitro modeling systems. The establishment of human pluripotent stem cell (PSC) models for FXS furnished new possibilities for the study of the disorder, by providing an unlimited source of disease-relevant cell types carrying the genetic profile associated with FXS. The differential use of embryonic stem cell and induced PSC models of FXS have led to novel insights regarding the epigenetic silencing of the FMR1 gene, the neural defects associated with the disorder, and the mechanism involved in CGG repeat instability. These studies confirmed the immense value of FXS PSCs in the investigation of mechanisms underlying disease manifestations and highlighted their potential in the development of targeted therapy.

Original languageAmerican English
Title of host publicationFragile X Syndrome
Subtitle of host publicationFrom Genetics to Targeted Treatment
Number of pages19
ISBN (Electronic)9780128045077
ISBN (Print)9780128044612
StatePublished - 26 May 2017

Bibliographical note

Publisher Copyright:
© 2017 Elsevier Inc. All rights reserved.


  • Disease modeling
  • Drug discovery
  • Embryonic stem cells
  • Fragile X syndrome
  • Human pluripotent stem cells
  • Neural differentiation


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