Generation of a transgene-free Induced pluripotent stem cell line from a female heterozygous carrier of the low density lipoprotein receptor gene mutation

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作者: Rujin Tian Yixiao Li Hongmei Xin Yue Jiang Haozheng Zhang Lin Zhong Zhongtao Gai Qianqian Deng Chunhui Wang Kaihui Zhang

作者单位: ³Department of Ophthalmology, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, Jinan, 250001, China ⁵Department of Integrated Traditional Chinese and Western Medicine, Shandong Cancer Hospital of Shandong First Medical University, China ¹Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University (Jinan Children’s Hospital), Jinan, Shandong 250022, China ²Rujin Tian and Yixiao Li were equally contributed to the study. ⁴Obstetrics and Gynecology Department, Lingcheng District’s Traditional Chinese Medicine Hospital, Dezhou 253500, China

摘要: The low density lipoprotein receptor （LDLR) gene encodes a protein of 860 amino acids. The encoded protein typically anchors itself to the cell membrane, where it facilitates the binding and internalization of low-density lipoprotein/cholesterol into the cell. Once inside, lysosomes liberate the cholesterol, which then becomes available to suppress the activity of the microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A reductase. This enzyme serves as the rate-limiting step in the biosynthe...更多; The low density lipoprotein receptor （LDLR) gene encodes a protein of 860 amino acids. The encoded protein typically anchors itself to the cell membrane, where it facilitates the binding and internalization of low-density lipoprotein/cholesterol into the cell. Once inside, lysosomes liberate the cholesterol, which then becomes available to suppress the activity of the microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A reductase. This enzyme serves as the rate-limiting step in the biosynthesis of cholesterol. We generated a human iPS cell line from a 38-years-old woman carrying a heterozygous mutation in LDLR gene. This cell line retains the original mutation site and shows differentiation potential towards three germ layers in vitro, which can be used as a disease model for research.收起

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