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从携带HTT基因突变的异常胚胎中生成人类胚胎干细胞系chHES-458。

Generation of human embryonic stem cell line chHES-458 from abnormal embryos with HTT gene mutation.

作者信息

Xie Pingyuan, Sun Yanfang, Zhou Xiaoying, Chen Jing, Du Juan, Sun Yi, Lu Guangxiu, Lin Ge, Ouyang Qi

机构信息

Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, China; National Engineering and Research Center of Human Stem Cell, Changsha, China.

Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, China.

出版信息

Stem Cell Res. 2016 Nov;17(3):627-629. doi: 10.1016/j.scr.2016.11.002. Epub 2016 Nov 5.

DOI:10.1016/j.scr.2016.11.002
PMID:27934595
Abstract

The human embryonic stem cell (hESC) line chHES-458 was derived from a abnormal blastocyst carrying the expanded CAG repeat mutation of the HTT gene that would lead to Huntington disease. This cell line maintained a normal karyotype 46, XX during long-term culture and displayed pluripotent characteristics, including expression of pluripotency-related transcription factors and capacity of forming well-differentiated three germ layers after being injected into the SCID mice.

摘要

人胚胎干细胞系chHES - 458源自一个携带HTT基因CAG重复序列扩展突变的异常囊胚,该突变会导致亨廷顿病。该细胞系在长期培养过程中保持了正常的46, XX核型,并表现出多能性特征,包括多能性相关转录因子的表达以及注入SCID小鼠后形成分化良好的三个胚层的能力。

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