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EPS and iPS Cells in Disease Research

EPS and iPS Cells in Disease Research

Embryonic and induced pluripotent stem cells are excellent models for disease research because of their ability to self-renew and differentiate into most cell types. Somatic cells from a patient are isolated and reprogrammed into induced pluripotent stem cells or iPSCs. These iPSCs are later differentiated into the desired cell type, which mirrors the diseased cell of the patient. In this way, disease models have been created for investigating diseases such as Down syndrome, type I diabetes,...

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Related Experiment Video

Updated: Mar 14, 2026

Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein

Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein

Published on: June 6, 2025

Modeling Fragile X Syndrome Using Human Pluripotent Stem Cells.

Hagar Mor-Shaked¹, Rachel Eiges²

¹Stem Cell Research Laboratory, Medical Genetics Institute, Shaare Zedek Medical Center Affiliated with the Hebrew University School of Medicine, Jerusalem 91031, Israel. hagar.mor@mail.huji.ac.il.

|October 1, 2016

Summary

Fragile X syndrome (FXS) is a common heritable cognitive impairment caused by FMR1 gene mutations. Pluripotent stem cells offer valuable models for studying FXS mechanisms and developing therapies.

Keywords:

FMR1 gene FMRP disease modeling epigenetics fragile X syndrome human embryonic stem cells neurodevelopment patient-derived iPS cells repeat somatic instability

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Area of Science:

Neuroscience
Genetics
Molecular Biology

Background:

Fragile X syndrome (FXS) is the leading inherited cause of cognitive impairment, stemming from CGG repeat expansions in the FMR1 gene.
This expansion triggers FMR1 promoter methylation and repressive histone modifications, leading to fragile X mental retardation protein (FMRP) deficiency.
The instability of CGG repeats and the precise mechanisms linking FMRP deficiency to neuronal pathology remain incompletely understood.

Approach:

This review examines the utility of pluripotent stem cells, including mutant human embryonic stem cells and patient-derived induced pluripotent stem cells, for FXS modeling.
These cellular models are crucial for investigating the molecular underpinnings of FXS.
They also facilitate the development and testing of novel therapeutic strategies.

Key Points:

Pluripotent stem cells provide a platform to study FMRP deficiency-related neuronal dysfunction in FXS.
These models aid in elucidating the mechanisms behind aberrant DNA methylation and CGG repeat instability in FXS patients.
Patient-derived iPSCs offer a personalized approach to disease modeling and therapeutic development for FXS.

Conclusions:

Pluripotent stem cell technologies are instrumental in advancing our understanding of Fragile X syndrome.
These models are critical for both basic research into FXS pathogenesis and the applied development of effective treatments.