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 lib...
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| Format: | Article |
| Language: | English |
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Elsevier
2025-04-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506125000066 |
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| author | Rujin Tian Yixiao Li Hongmei Xin Yue Jiang Haozheng Zhang Lin Zhong Zhongtao Gai Qianqian Deng Chunhui Wang Kaihui Zhang |
| author_facet | Rujin Tian Yixiao Li Hongmei Xin Yue Jiang Haozheng Zhang Lin Zhong Zhongtao Gai Qianqian Deng Chunhui Wang Kaihui Zhang |
| author_sort | Rujin Tian |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-958cfde97b5f48429c9f11cfe6d1b492 |
| institution | Kabale University |
| issn | 1873-5061 |
| language | English |
| publishDate | 2025-04-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj-art-958cfde97b5f48429c9f11cfe6d1b4922025-02-05T04:31:26ZengElsevierStem Cell Research1873-50612025-04-0184103656Generation 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)Rujin Tian0Yixiao Li1Hongmei Xin2Yue Jiang3Haozheng Zhang4Lin Zhong5Zhongtao Gai6Qianqian Deng7Chunhui Wang8Kaihui Zhang9Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University (Jinan Children’s Hospital), Jinan, Shandong 250022, ChinaPediatric Research Institute, Children’s Hospital Affiliated to Shandong University (Jinan Children’s Hospital), Jinan, Shandong 250022, China; Department of Ophthalmology, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, Jinan, 250001, ChinaPediatric Research Institute, Children’s Hospital Affiliated to Shandong University (Jinan Children’s Hospital), Jinan, Shandong 250022, ChinaPediatric Research Institute, Children’s Hospital Affiliated to Shandong University (Jinan Children’s Hospital), Jinan, Shandong 250022, ChinaPediatric Research Institute, Children’s Hospital Affiliated to Shandong University (Jinan Children’s Hospital), Jinan, Shandong 250022, ChinaPediatric Research Institute, Children’s Hospital Affiliated to Shandong University (Jinan Children’s Hospital), Jinan, Shandong 250022, ChinaPediatric Research Institute, Children’s Hospital Affiliated to Shandong University (Jinan Children’s Hospital), Jinan, Shandong 250022, ChinaObstetrics and Gynecology Department, Lingcheng District’s Traditional Chinese Medicine Hospital, Dezhou 253500, China; Corresponding authors.Department of Integrated Traditional Chinese and Western Medicine, Shandong Cancer Hospital of Shandong First Medical University, China; Corresponding authors.Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University (Jinan Children’s Hospital), Jinan, Shandong 250022, China; Corresponding authors.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.http://www.sciencedirect.com/science/article/pii/S1873506125000066 |
| spellingShingle | 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 |
| title | 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) |
| title_full | 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) |
| title_fullStr | 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) |
| title_full_unstemmed | 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) |
| title_short | 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) |
| title_sort | 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 |
| url | http://www.sciencedirect.com/science/article/pii/S1873506125000066 |
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