Generation of an iPSC line (SDQLCHi030-A) derived from PBMCs of a patient with Lesch-Nyhan syndrome caused by HPRT1 mutation
Lesch-Nyhan syndrome (LNS, MIM300322) is a rare inherited disorder caused by mutations in HPRT1 gene. Here we describe the generation of induced pluripotent stem cells (iPSCs) from an infected child carrying the HPRT1 mutation c.508C > T(p.R170X) by reprogramming peripheral blood mononuclear cell...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2024-02-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506123002738 |
| _version_ | 1797356367056470016 |
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| author | Yue Li Huawei Zhang Jingyun Guan Bin Wang Haiyan Zhang Yi Liu Zhongtao Gai |
| author_facet | Yue Li Huawei Zhang Jingyun Guan Bin Wang Haiyan Zhang Yi Liu Zhongtao Gai |
| author_sort | Yue Li |
| collection | DOAJ |
| description | Lesch-Nyhan syndrome (LNS, MIM300322) is a rare inherited disorder caused by mutations in HPRT1 gene. Here we describe the generation of induced pluripotent stem cells (iPSCs) from an infected child carrying the HPRT1 mutation c.508C > T(p.R170X) by reprogramming peripheral blood mononuclear cells (PBMCs) with episomal vectors. The obtained hiPSCs exhibited normal karyotype, expressed pluripotency markers, and possessed trilineage differentiation capacity. |
| first_indexed | 2024-03-08T14:26:35Z |
| format | Article |
| id | doaj.art-da13f7566ba24658b7b99b101ff45860 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-03-08T14:26:35Z |
| publishDate | 2024-02-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-da13f7566ba24658b7b99b101ff458602024-01-13T04:43:51ZengElsevierStem Cell Research1873-50612024-02-0174103287Generation of an iPSC line (SDQLCHi030-A) derived from PBMCs of a patient with Lesch-Nyhan syndrome caused by HPRT1 mutationYue Li0Huawei Zhang1Jingyun Guan2Bin Wang3Haiyan Zhang4Yi Liu5Zhongtao Gai6Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University (Jinan Children’s Hospital), Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children’s Health and Disease, Jinan, 250022, ChinaRehabilitation Center, 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; Shandong Provincial Clinical Research Center for Children’s Health and Disease, Jinan, 250022, ChinaPediatric Research Institute, Children’s Hospital Affiliated to Shandong University (Jinan Children’s Hospital), Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children’s Health and Disease, Jinan, 250022, ChinaPediatric Research Institute, Children’s Hospital Affiliated to Shandong University (Jinan Children’s Hospital), Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children’s Health and Disease, Jinan, 250022, China; Corresponding authors at: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University (Jinan Children’s Hospital), Jinan, Shandong 250022, China.Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University (Jinan Children’s Hospital), Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children’s Health and Disease, Jinan, 250022, China; Corresponding authors at: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University (Jinan Children’s Hospital), Jinan, Shandong 250022, China.Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University (Jinan Children’s Hospital), Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children’s Health and Disease, Jinan, 250022, ChinaLesch-Nyhan syndrome (LNS, MIM300322) is a rare inherited disorder caused by mutations in HPRT1 gene. Here we describe the generation of induced pluripotent stem cells (iPSCs) from an infected child carrying the HPRT1 mutation c.508C > T(p.R170X) by reprogramming peripheral blood mononuclear cells (PBMCs) with episomal vectors. The obtained hiPSCs exhibited normal karyotype, expressed pluripotency markers, and possessed trilineage differentiation capacity.http://www.sciencedirect.com/science/article/pii/S1873506123002738 |
| spellingShingle | Yue Li Huawei Zhang Jingyun Guan Bin Wang Haiyan Zhang Yi Liu Zhongtao Gai Generation of an iPSC line (SDQLCHi030-A) derived from PBMCs of a patient with Lesch-Nyhan syndrome caused by HPRT1 mutation Stem Cell Research |
| title | Generation of an iPSC line (SDQLCHi030-A) derived from PBMCs of a patient with Lesch-Nyhan syndrome caused by HPRT1 mutation |
| title_full | Generation of an iPSC line (SDQLCHi030-A) derived from PBMCs of a patient with Lesch-Nyhan syndrome caused by HPRT1 mutation |
| title_fullStr | Generation of an iPSC line (SDQLCHi030-A) derived from PBMCs of a patient with Lesch-Nyhan syndrome caused by HPRT1 mutation |
| title_full_unstemmed | Generation of an iPSC line (SDQLCHi030-A) derived from PBMCs of a patient with Lesch-Nyhan syndrome caused by HPRT1 mutation |
| title_short | Generation of an iPSC line (SDQLCHi030-A) derived from PBMCs of a patient with Lesch-Nyhan syndrome caused by HPRT1 mutation |
| title_sort | generation of an ipsc line sdqlchi030 a derived from pbmcs of a patient with lesch nyhan syndrome caused by hprt1 mutation |
| url | http://www.sciencedirect.com/science/article/pii/S1873506123002738 |
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