Generation of integration-free induced pluripotent stem cell line (NJMUi001-A) from a phenylketonuria patient

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....

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Published in:Stem cell research 2017-12, Vol.25 (C), p.179-182
Main Authors: Xu, Tianhui, Liang, Dong, Zhang, Jingjing, Ji, Xiuqing, Hu, Huanran, Sun, Yun, Jiang, Tao, Wang, Xia, Hu, Ping, Xu, Zhengfeng
Format: Article
Language:English
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Summary: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. •This is the first report to generate iPSC line from PKU patient.•The iPSC line was generated from PBMCs of the patient non-integratively.•The resulting iPSCs retained the disease-causing c.331C>T and c.975C>G heterozygous mutation sites.
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2017.11.008