Guo Xiaoling, Zhang Xufei, Wang Linlin, He Lingyun, Ding Yinjuan, Chen Huihui, Wang Dexuan, Rong Xing, Shen Xian, Lin Jian, Chu Maoping
Center of Scientific Research, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China; Department of Pediatrics, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.
Center of Scientific Research, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China; Department of Gastrointestinal Surgery, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.
Stem Cell Res. 2021 Mar;51:102159. doi: 10.1016/j.scr.2021.102159. Epub 2021 Jan 8.
The mutations of polyglutamine binding protein 1 gene (PQBP1) can lead to the rare inherited X-linked Renpenning syndrome (X-RSY). Here, an induced pluripotent stem cell (iPSC) line WMUi017-A was generated through reprogramming the urine cells of a 5-year-old male X-RSY patient with the hemizygous PQBP1 gene mutation p.P609A (c.1825C>G) using the commercial Sendai virus reprogramming system. The established iPSCs can stably express pluripotent stem cell markers OCT4 and NANOG, and can be induced into three germ layers and maintain a normal karyotype (46, XY) in vitro.
聚谷氨酰胺结合蛋白1基因（PQBP1）的突变可导致罕见的遗传性X连锁Renpenning综合征（X-RSY）。在此，使用商业仙台病毒重编程系统，通过对一名5岁男性X-RSY患者的尿液细胞进行重编程，该患者的PQBP1基因存在半合子突变p.P609A（c.1825C>G），从而产生了诱导多能干细胞（iPSC）系WMUi017-A。所建立的诱导多能干细胞能够稳定表达多能干细胞标志物OCT4和NANOG，并且在体外可被诱导分化为三个胚层，同时保持正常的核型（46, XY）。
