TY - JOUR
T1 - 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
AU - Falik, Daniel
AU - Rabinski, Tatiana
AU - Zlotnik, Dor
AU - Eshel, Reut
AU - Zorsky, Meshi
AU - Garin-Shkolnik, Tali
AU - Ofir, Rivka
AU - Adato, Avital
AU - Ashkenazi, Avraham
AU - Vatine, Gad D.
N1 - Funding Information:
This work was supported by the CCHS network (GDV and AA), Israel Science Foundation (ISF) grant 1621/18 (GDV) and the Azrieli foundation (AA).
Publisher Copyright:
© 2020 The Authors
PY - 2020/10/1
Y1 - 2020/10/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85089494450&partnerID=8YFLogxK
U2 - 10.1016/j.scr.2020.101955
DO - 10.1016/j.scr.2020.101955
M3 - Article
C2 - 32822965
AN - SCOPUS:85089494450
SN - 1873-5061
VL - 48
JO - Stem Cell Research
JF - Stem Cell Research
M1 - 101955
ER -