CUL4B gene encodes a scaffold protein that assembles the CRL4B ubiquitin ligase complex, and its mutation can causes X-Linked Mental Retardation (XLMR) emerged with intellectual deficit, delayed puberty, short stature and fine intention tremor. Here we report the generation of SDUBMSi002-A, an induced pluripotent stem cell line derived from patient with c. 1564C→T with CUL4B gene using non-integrative reprogramming technology. The iPSCs line expresses pluripotent markers, has a normal male karyotype and can differentiate into the three germ layers.

中文翻译：

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由X连锁智力低下综合征患者产生患者特异性多能诱导干细胞系SDUBMSI002-A。

CUL4B基因编码一个组装CRL4B泛素连接酶复合物的支架蛋白，其突变可导致X连锁精神发育迟滞（XLMR）出现，其智力缺陷，青春期延迟，身材矮小和好意震颤。在这里，我们报告SDUBMSi002-A的产生，SDUBMSi002-A是由c病人衍生的诱导性多能干细胞系。使用非整合重编程技术将CUL4B基因导入1564C→T 。iPSCs系表达多能性标记，具有正常的男性核型，可以分化为三个胚层。