Xu Tianhui, Liang Dong, Zhang Jingjing, Ji Xiuqing, Hu Huanran, Sun Yun, Jiang Tao, Wang Xia, Hu Ping, Xu Zhengfeng
State Key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis, Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical University, Nanjing 210004, China.
Department of Anatomy, Histology & Developmental Biology, School of Basic Medical Sciences, Shenzhen University Health Science Center, Shenzhen 518000, China.
Stem Cell Res. 2017 Dec;25:179-182. doi: 10.1016/j.scr.2017.11.008. Epub 2017 Nov 10.
PKU is a prevalent type of inherited metabolic disease, caused by the defective phenylalanine metabolism. In most PKU cases, mutations in the PAH gene could be found. Dysfunction of this hepatic enzyme will lead to diverse clinical symptoms due to a failure in converting phenylalanine into tyrosine. Here, we report an integration-free human induced pluripotent stem cell line (NJMUi001-A) generated from peripheral blood mononuclear cells of a PKU patient by using Sendai virus. This iPS cell line has characteristics of pluripotent stem cells and can be used as a useful tool for the investigation of this inherited metabolic disease.
