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

doi:10.1016/j.scr.2020.101955

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

Research output: Contribution to journal › Article › peer-review

10 Scopus citations

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 language	English
Article number	101955
Journal	Stem Cell Research
Volume	48
DOIs	https://doi.org/10.1016/j.scr.2020.101955
State	Published - 1 Oct 2020

ASJC Scopus subject areas

Developmental Biology
Cell Biology

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.scr.2020.101955

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Falik, D., Rabinski, T., Zlotnik, D., Eshel, R., Zorsky, M., Garin-Shkolnik, T., Ofir, R., Adato, A., Ashkenazi, A., & Vatine, G. D. (2020). 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, 48, Article 101955. https://doi.org/10.1016/j.scr.2020.101955

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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",

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.",

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

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Falik, D, Rabinski, T, Zlotnik, D, Eshel, R, Zorsky, M, Garin-Shkolnik, T, Ofir, R, Adato, A, Ashkenazi, A & Vatine, GD 2020, '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, vol. 48, 101955. https://doi.org/10.1016/j.scr.2020.101955

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.

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.

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DO - 10.1016/j.scr.2020.101955

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C2 - 32822965

AN - SCOPUS:85089494450

SN - 1873-5061

VL - 48

JO - Stem Cell Research

JF - Stem Cell Research

M1 - 101955

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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

Abstract

ASJC Scopus subject areas

UN SDGs

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