Generation of a transgene-free Induced pluripotent stem (iPS) cell line (JNCHi002-A) from a female heterozygous carrier of the low density lipoprotein receptor (LDLR) gene mutation (c.387delC).

The low density lipoprotein receptor （LDLR) gene (OMIM#606945)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 (HMG-CoA) 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 (c.387delC) 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. Copyright © 2025 The Author(s). Published by Elsevier B.V. All rights reserved.

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Rujin Tian, Yixiao Li, Hongmei Xin, Yue Jiang, Haozheng Zhang, Lin Zhong, Zhongtao Gai, Qianqian Deng, Chunhui Wang, Kaihui Zhang. Generation of a transgene-free Induced pluripotent stem (iPS) cell line (JNCHi002-A) from a female heterozygous carrier of the low density lipoprotein receptor (LDLR) gene mutation (c.387delC). Stem cell research. 2025 Apr;84:103656

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PMID: 39908959

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