Generation and characterization of iPSC lines (BGUi004-A, BGUi005-A) from two identical twins with polyalanine expansion in the paired-like homeobox 2B (PHOX2B) gene

Congenital central hypoventilation syndrome (CCHS) is a rare life-threatening condition affecting the autonomic nervous system that usually presents shortly after birth as hypoventilation or central apnea during sleep. In the majority of cases, heterozygous polyalanine expansion mutations within the...

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Main Authors:	Daniel Falik, Tatiana Rabinski, Dor Zlotnik, Reut Eshel, Meshi Zorsky, Tali Garin-Shkolnik, Rivka Ofir, Avital Adato, Avraham Ashkenazi, Gad D. Vatine
Format:	Article
Language:	English
Published:	Elsevier 2020-10-01
Series:	Stem Cell Research
Online Access:	http://www.sciencedirect.com/science/article/pii/S1873506120302567

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spelling	doaj-4b450cf89edf4fbab7be77932ad864f72020-11-25T03:51:08ZengElsevierStem Cell Research1873-50612020-10-0148101955Generation and characterization of iPSC lines (BGUi004-A, BGUi005-A) from two identical twins with polyalanine expansion in the paired-like homeobox 2B (PHOX2B) geneDaniel Falik0Tatiana Rabinski1Dor Zlotnik2Reut Eshel3Meshi Zorsky4Tali Garin-Shkolnik5Rivka Ofir6Avital Adato7Avraham Ashkenazi8Gad D. Vatine9The Department of Biotechnology Engineering, Faculty of Engineering Sciences, Ben-Gurion University of the Negev, Beer Sheva 84105, Israel; The Regenerative Medicine and Stem Cell (RMSC) Research Center, Ben-Gurion University of the Negev, Beer Sheva 84105, Israel; The Department of Physiology and Cell Biology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva 84105, IsraelThe Regenerative Medicine and Stem Cell (RMSC) Research Center, Ben-Gurion University of the Negev, Beer Sheva 84105, IsraelThe Regenerative Medicine and Stem Cell (RMSC) Research Center, Ben-Gurion University of the Negev, Beer Sheva 84105, Israel; The Department of Physiology and Cell Biology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva 84105, Israel; The Zlotowski Center for Neuroscience, Ben-Gurion University of the Negev, Beer Sheva, 84105, Israel; Department of Life Sciences, Ben-Gurion University of the Negev, Beer Sheva 84105, IsraelThe Regenerative Medicine and Stem Cell (RMSC) Research Center, Ben-Gurion University of the Negev, Beer Sheva 84105, Israel; The Department of Physiology and Cell Biology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva 84105, IsraelThe Department of Biotechnology Engineering, Faculty of Engineering Sciences, Ben-Gurion University of the Negev, Beer Sheva 84105, Israel; The Regenerative Medicine and Stem Cell (RMSC) Research Center, Ben-Gurion University of the Negev, Beer Sheva 84105, IsraelClalit Health Services, IsraelThe Regenerative Medicine and Stem Cell (RMSC) Research Center, Ben-Gurion University of the Negev, Beer Sheva 84105, IsraelYad La-Neshima Association, CCHS, IsraelDepartment of Cell and Developmental Biology, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, IsraelThe Regenerative Medicine and Stem Cell (RMSC) Research Center, Ben-Gurion University of the Negev, Beer Sheva 84105, Israel; The Department of Physiology and Cell Biology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva 84105, Israel; The Zlotowski Center for Neuroscience, Ben-Gurion University of the Negev, Beer Sheva, 84105, Israel; Corresponding author at: The Department of Physiology and Cell Biology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva 84105, Israel.Congenital central hypoventilation syndrome (CCHS) is a rare life-threatening condition affecting the autonomic nervous system that usually presents shortly after birth as hypoventilation or central apnea during sleep. In the majority of cases, heterozygous polyalanine expansion mutations within the third exon of the paired-like homeobox 2B (PHOX2B) gene underlie CCHS. Here, we report the generation of two induced pluripotent stem cell (iPSC) lines from two identical twins with a heterozygous PHOX2B expansion mutation (+5 alanine residues). Both generated lines highly express pluripotency markers, can differentiate into the three germ layers, retain the disease-causing mutation and display normal karyotypes.http://www.sciencedirect.com/science/article/pii/S1873506120302567
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Daniel Falik Tatiana Rabinski Dor Zlotnik Reut Eshel Meshi Zorsky Tali Garin-Shkolnik Rivka Ofir Avital Adato Avraham Ashkenazi Gad D. Vatine
spellingShingle	Daniel Falik Tatiana Rabinski Dor Zlotnik Reut Eshel Meshi Zorsky Tali Garin-Shkolnik Rivka Ofir Avital Adato Avraham Ashkenazi Gad D. Vatine Generation and characterization of iPSC lines (BGUi004-A, BGUi005-A) from two identical twins with polyalanine expansion in the paired-like homeobox 2B (PHOX2B) gene Stem Cell Research
author_facet	Daniel Falik Tatiana Rabinski Dor Zlotnik Reut Eshel Meshi Zorsky Tali Garin-Shkolnik Rivka Ofir Avital Adato Avraham Ashkenazi Gad D. Vatine
author_sort	Daniel Falik
title	Generation and characterization of iPSC lines (BGUi004-A, BGUi005-A) from two identical twins with polyalanine expansion in the paired-like homeobox 2B (PHOX2B) gene
title_short	Generation and characterization of iPSC lines (BGUi004-A, BGUi005-A) from two identical twins with polyalanine expansion in the paired-like homeobox 2B (PHOX2B) gene
title_full	Generation and characterization of iPSC lines (BGUi004-A, BGUi005-A) from two identical twins with polyalanine expansion in the paired-like homeobox 2B (PHOX2B) gene
title_fullStr	Generation and characterization of iPSC lines (BGUi004-A, BGUi005-A) from two identical twins with polyalanine expansion in the paired-like homeobox 2B (PHOX2B) gene
title_full_unstemmed	Generation and characterization of iPSC lines (BGUi004-A, BGUi005-A) from two identical twins with polyalanine expansion in the paired-like homeobox 2B (PHOX2B) gene
title_sort	generation and characterization of ipsc lines (bgui004-a, bgui005-a) from two identical twins with polyalanine expansion in the paired-like homeobox 2b (phox2b) gene
publisher	Elsevier
series	Stem Cell Research
issn	1873-5061
publishDate	2020-10-01
description	Congenital central hypoventilation syndrome (CCHS) is a rare life-threatening condition affecting the autonomic nervous system that usually presents shortly after birth as hypoventilation or central apnea during sleep. In the majority of cases, heterozygous polyalanine expansion mutations within the third exon of the paired-like homeobox 2B (PHOX2B) gene underlie CCHS. Here, we report the generation of two induced pluripotent stem cell (iPSC) lines from two identical twins with a heterozygous PHOX2B expansion mutation (+5 alanine residues). Both generated lines highly express pluripotency markers, can differentiate into the three germ layers, retain the disease-causing mutation and display normal karyotypes.
url	http://www.sciencedirect.com/science/article/pii/S1873506120302567
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Generation and characterization of iPSC lines (BGUi004-A, BGUi005-A) from two identical twins with polyalanine expansion in the paired-like homeobox 2B (PHOX2B) gene

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