Generation of an induced pluripotent stem cell line from an adult male with 45,X/46,XY mosaicism

Yumei Luo; Detu Zhu; Xiangye Xu; Lingxia Ge; Xiaofang Sun; Guokai Chen; Yaoyong Chen

Stem Cell Research (Mar 2018)

Generation of an induced pluripotent stem cell line from an adult male with 45,X/46,XY mosaicism

Yumei Luo,
Detu Zhu,
Xiangye Xu,
Lingxia Ge,
Xiaofang Sun,
Guokai Chen,
Yaoyong Chen

Affiliations

Yumei Luo: Key Laboratory for Major Obstetric Diseases of Guangdong Province; Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150, China
Detu Zhu: Department of Genetic Medicine, Weill Cornell Medical College, New York, NY 10065, USA
Xiangye Xu: Key Laboratory for Major Obstetric Diseases of Guangdong Province; Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150, China
Lingxia Ge: Key Laboratory for Major Obstetric Diseases of Guangdong Province; Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150, China
Xiaofang Sun: Key Laboratory for Major Obstetric Diseases of Guangdong Province; Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150, China
Guokai Chen: Faculty of Health Sciences, University of Macau, Macau 999078, China; National Heart, Lung and Blood Institute, NIH, Bethesda, MD 20892, USA
Yaoyong Chen: Key Laboratory for Major Obstetric Diseases of Guangdong Province; Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150, China; Corresponding author.

Journal volume & issue: Vol. 27
pp. 42 – 45

Abstract

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Turner syndrome (TS) with 45,X/46,XY mosaic karyotype is a rare sex chromosome disorder with an occurrence of 0.15‰ at birth. We report the generation of an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a Chinese adult male with 45,X/46,XY mosaicism. The iPSC line retains the original 45,X/46,XY mosaic karyotype, expresses pluripotency markers and undergoes trilineage differentiation. Therefore, it offers an unprecedented cellular model to investigate the profound symptoms like infertility of TS in the male, and serve as a useful tool to develop therapies for the disease.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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