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

Daniel Falik, Tatiana Rabinski, Dor Zlotnik, Reut Eshel, Meshi Zorsky, Tali Garin-Shkolnik, Rivka Ofir, Avital Adato, Avraham Ashkenazi, Gad D. Vatine

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Abstract

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.

Original languageEnglish
Article number101955
JournalStem Cell Research
Volume48
DOIs
StatePublished - 1 Oct 2020

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