Article
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 - 1 Oct 2020
Falik Daniel, Rabinski Tatiana, Zlotnik Dor, Eshel Reut, Zorsky Meshi, Garin-Shkolnik Tali, Ofir Rivka, Adato Avital, Ashkenazi Avraham, Vatine Gad D
Abstract excerpt
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...
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