Wilson’s disease (WD) is an inherited autosomal recessive disease, which is caused by the mutation of ATP7B gene encoding copper-transporting ATPase protein. The WD patients always suffer from the excessive copper deposition in the liver and other tissues because of the dysfunction of the copper-transporting ATPase protein. In this study, we generated a patient-specific induced pluripotent stem cell (iPSC) line (ZJUi003-A), which showed normal karyotype, expressed pluripotency markers and was capable to differentiate into three germ layers.

中文翻译：

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ZJUi003-A 的产生，这是一种来自威尔逊病患者的诱导多能干细胞系，在 ATP7B 基因中携带 c.180_181del 突变。

威尔逊病（WD）是一种遗传性常染色体隐性遗传病，由编码铜转运ATP酶蛋白的ATP7B基因突变引起。WD患者常因铜转运ATP酶蛋白功能障碍而导致肝脏和其他组织中铜沉积过多。在这项研究中，我们生成了一个患者特异性诱导多能干细胞 (iPSC) 系 (ZJUi003-A)，它显示正常的核型、表达多能性标记并能够分化成三个胚层。