Ouyang Qi, Zhou Xiaoying, Chen Jing, Du Juan, Lu Guangxiu, Lin Ge, Sun Yi
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; Key Laboratory of Stem Cells and Reproductive Engineering, Ministry of Health, Changsha, China.
National Engineering and Research Center of Human Stem Cell, Changsha, China.
Stem Cell Res. 2016 Nov;17(3):634-636. doi: 10.1016/j.scr.2016.11.003. Epub 2016 Nov 9.
Human embryonic stem cell (hESC) line chHES-480 was derived from abnormal blastocyst diagnosed with adrenoleukodystrophy (ALD) after preimplantation genetic diagnosis (PGD) treatment. DNA sequencing analysis confirmed that chHES-480 cell line carried a hemizygous missense mutation c.1825G>A(p.Glu609Lys) of ABCD1 gene. Characteristic tests proved that the chHES-480 cell line presented typical markers of pluripotency and had the capability to form the three germ layers both in vitro and in vivo.
人胚胎干细胞系chHES-480是在植入前基因诊断（PGD）治疗后，从被诊断患有肾上腺脑白质营养不良（ALD）的异常囊胚中获得的。DNA测序分析证实，chHES-480细胞系携带ABCD1基因的半合子错义突变c.1825G>A（p.Glu609Lys）。特性测试证明，chHES-480细胞系呈现出典型的多能性标志物，并且在体外和体内均具有形成三个胚层的能力。
