Generation of human embryonic stem cell line chHES-472 from abnormal embryos diagnosed with Spinocerebellar ataxia type 3.
Generation of human embryonic stem cell line chHES-472 from abnormal embryos diagnosed with Spinocerebellar ataxia type 3.
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DOI：
10.1016/j.scr.2016.10.001
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发表时间：
2016-11
影响因子：
1.2
通讯作者：
Lvjun Liu;Sicong Zeng;Yi Sun;Xiaoying Zhou;J. Chen;J. Du;G. Lu;G. Lin;Q. Ouyang
中科院分区：
文献类型：
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作者：
Lvjun Liu;Sicong Zeng;Yi Sun;Xiaoying Zhou;J. Chen;J. Du;G. Lu;G. Lin;Q. Ouyang
脊髓小脑性共济失调3型（SCA3）是一种常染色体显性神经退行性疾病。人胚胎干细胞系hes -472来源于SCA3患者捐献的胚胎，经胚胎着床前遗传学诊断（PGD）处理。该细胞系核型正常，并保留了致病突变体atxn3基因。特性实验证明，该胚胎干细胞具有典型的多能性标记，在体内具有形成三种胚层的能力。
Spinocerebellar ataxia type3 (SCA3) is an autosomal dominant neurodegenerative disorder. Human embryonic stem cell linechHES-472 was derived from abnormal embryo donated by SCA3 patient after preimplantation genetic diagnosis (PGD) treatment. This cell line had a normal karyotype and retained the disease-causing mutant inATXN3gene. Characteristic tests proved that the embryonic stem cell line presented typical markers of pluripotency and had the capability to form the three germlayers in vivo.