Generation of an induced pluripotent stem cell line from an adult male with 45,X/46,XY mosaicism.
Generation of an induced pluripotent stem cell line from an adult male with 45,X/46,XY mosaicism.
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DOI：
10.1016/j.scr.2018.01.003
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发表时间：
2018-03
影响因子：
1.2
通讯作者：
Yumei Luo;Detu Zhu;Xiangye Xu;Lingxia Ge;Xiaofang Sun;Guokai Chen;Yaoyong Chen
中科院分区：
文献类型：
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作者：
Yumei Luo;Detu Zhu;Xiangye Xu;Lingxia Ge;Xiaofang Sun;Guokai Chen;Yaoyong Chen
Turner综合征（TS）是一种罕见的性染色体异常，其核型为45，X/46，XY嵌合体，出生时发生率为0.15‰。我们报道了从一名45，X/46，XY嵌合体的中国成年男性外周血单个核细胞中诱导多能干细胞（iPSC）系的产生。iPSC系保留了原始的45，X/46，XY嵌合核型，表达多能性标记物并经历三系分化。因此，它提供了一个前所未有的细胞模型，以研究男性TS不育等深刻的症状，并作为一个有用的工具来开发该疾病的治疗方法。
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.