Abstract：
Williams syndrome (WS) is a relatively rare genetic disorder. It arises from a microdeletion in chromosome 7q11.23, resulting in the loss of one copy of more than 20 genes. Disorders in multiple systems, including cardiovascular and nervous systems, occur in patients with WS. Here, we generated two human induced pluripotent stem cell (iPSC) lines from WS patients. Both lines expressed pluripotency markers at gene and protein levels. They possessed normal karyotypes and the potential to differentiate into three germ layers. They serve as a useful tool to study disease mechanism, test drugs, and identify promising therapeutics for patients with WS.
摘要：
威廉姆斯综合征（WS）是一种相对罕见的遗传性疾病。它源于染色体7q11.23中的微缺失，导致20多个基因的一个拷贝丢失。多个系统的疾病，包括心血管和神经系统，发生在WS患者中。这里,我们从WS患者中产生了两个人诱导多能干细胞(iPSC)系.两种品系都在基因和蛋白质水平上表达多能性标记。他们具有正常的核型和分化为三个胚层的潜力。它们是研究疾病机制的有用工具，测试药物，并为WS患者确定有希望的治疗方法。
