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 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. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Falik D, Rabinski T, Zlotnik D, Eshel R, Zorsky M, Garin-Shkolnik T, Ofir R, Adato A, Ashkenazi A, Vatine GD
Journal Stem cell research
Publication Date 2020 Oct;48:101955
PubMed 32822965
DOI 10.1016/j.scr.2020.101955

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