Review
Copyright ©The Author(s) 2015. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Stem Cells. Jun 26, 2015; 7(5): 823-838
Published online Jun 26, 2015. doi: 10.4252/wjsc.v7.i5.823
Modeling diseases of noncoding unstable repeat expansions using mutant pluripotent stem cells
Shira Yanovsky-Dagan, Hagar Mor-Shaked, Rachel Eiges
Shira Yanovsky-Dagan, Hagar Mor-Shaked, Rachel Eiges, Stem Cell Research Laboratory, Medical Genetics Institute, Shaare Zedek Medical Center affiliated with the Hebrew University School of Medicine, Jerusalem 91031, Israel
Author contributions: Yanovsky-Dagan S and Mor-Shaked H equally contributed to the preparation of the review; Eiges R designed the aim of the editorial and wrote the manuscript.
Conflict-of-interest: The authors declare no conflicts of interest.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Rachel Eiges, PhD, Stem Cell Research Laboratory, Medical Genetics Institute, Shaare Zedek Medical Center affiliated with the Hebrew University School of Medicine, 12 Shmu’el Bait Street, PO Box 3235, Jerusalem 91031, Israel. rachela@szmc.org.il
Telephone: +972-2-6555129 Fax: +972-2-6666135
Received: December 5, 2014
Peer-review started: December 6, 2014
First decision: February 7, 2015
Revised: March 5, 2015
Accepted: April 1, 2015
Article in press: April 7, 2015
Published online: June 26, 2015
Processing time: 206 Days and 10.5 Hours
Core Tip

Core tip: This review summarizes the current contribution of mutant pluripotent stem cells (diseased HESCs and patient-derived induced pluripotent stem cells) to the research of unstable repeat pathologies by focusing on particularly large unstable noncoding expansions. It demonstrates their importance as an unlimited cell source for generating rarely available impaired cells in culture, and as a model system for exploring the mechanisms that are involved with this class of mutations. For each mechanism we describe the currently available stem cell based models, highlight how they contributed to better understanding of the related mechanism, and discuss how they may be utilized in future investigations.