Generation of human induced pluripotent stem cell lines UKJi001-A and UKJi006-A from patients with heterozygous mutation in the PKP2 gene
One of the main signs we do not know enough about arrhythmogenic right ventricular dysplasia 9/cardiomyopathy (ARVCD9, OMIM #609040, autosomal dominant) is the lack of early markers and therapeutic alternatives. To better study disease pathways in vitro, we generated human induced pluripotent stem c...
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| Format: | Article |
| Language: | English |
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Elsevier
2024-12-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506124002630 |
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| author | Mohamed M. Bekhite Sascha Hübner Tom Kretzschmar Claudia Backsch Anja Weise Elisabeth Klein Juergen Bogoviku Julian Westphal P. Christian Schulze |
| author_facet | Mohamed M. Bekhite Sascha Hübner Tom Kretzschmar Claudia Backsch Anja Weise Elisabeth Klein Juergen Bogoviku Julian Westphal P. Christian Schulze |
| author_sort | Mohamed M. Bekhite |
| collection | DOAJ |
| description | One of the main signs we do not know enough about arrhythmogenic right ventricular dysplasia 9/cardiomyopathy (ARVCD9, OMIM #609040, autosomal dominant) is the lack of early markers and therapeutic alternatives. To better study disease pathways in vitro, we generated human induced pluripotent stem cell (hiPSC) lines from the father (UKJi006-A) and son (UKJi001-A), who both shared the same heterozygous mutation in the PKP2 gene (OMIM *602861). While the father had a clinical diagnosis of ARVC, the son lacked the ARVC phenotype. To generate hiPSC lines, non-integrating Sendai virus (SeV) vectors expressing the reprogramming factors (OCT4, SOX2, KLF4, and c-MYC) were used for reprogramming patient peripheral blood mononuclear cells (PBMCs). |
| format | Article |
| id | doaj-art-3529ec8bed6a40bd945159fcd50b26e8 |
| institution | DOAJ |
| issn | 1873-5061 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj-art-3529ec8bed6a40bd945159fcd50b26e82025-08-20T02:49:50ZengElsevierStem Cell Research1873-50612024-12-018110356510.1016/j.scr.2024.103565Generation of human induced pluripotent stem cell lines UKJi001-A and UKJi006-A from patients with heterozygous mutation in the PKP2 geneMohamed M. Bekhite0Sascha Hübner1Tom Kretzschmar2Claudia Backsch3Anja Weise4Elisabeth Klein5Juergen Bogoviku6Julian Westphal7P. Christian Schulze8Department of Internal Medicine I, Division of Cardiology, University Hospital Jena, FSU Jena, Germany; Corresponding author.Department of Internal Medicine I, Division of Cardiology, University Hospital Jena, FSU Jena, GermanyDepartment of Internal Medicine I, Division of Cardiology, University Hospital Jena, FSU Jena, GermanyDepartment of Gynecology and Reproductive Medicine, Jena University Hospital, Friedrich-Schiller-University Jena, GermanyJena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, GermanyJena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, GermanyDepartment of Internal Medicine I, Division of Cardiology, University Hospital Jena, FSU Jena, GermanyDepartment of Internal Medicine I, Division of Cardiology, University Hospital Jena, FSU Jena, GermanyDepartment of Internal Medicine I, Division of Cardiology, University Hospital Jena, FSU Jena, GermanyOne of the main signs we do not know enough about arrhythmogenic right ventricular dysplasia 9/cardiomyopathy (ARVCD9, OMIM #609040, autosomal dominant) is the lack of early markers and therapeutic alternatives. To better study disease pathways in vitro, we generated human induced pluripotent stem cell (hiPSC) lines from the father (UKJi006-A) and son (UKJi001-A), who both shared the same heterozygous mutation in the PKP2 gene (OMIM *602861). While the father had a clinical diagnosis of ARVC, the son lacked the ARVC phenotype. To generate hiPSC lines, non-integrating Sendai virus (SeV) vectors expressing the reprogramming factors (OCT4, SOX2, KLF4, and c-MYC) were used for reprogramming patient peripheral blood mononuclear cells (PBMCs).http://www.sciencedirect.com/science/article/pii/S1873506124002630 |
| spellingShingle | Mohamed M. Bekhite Sascha Hübner Tom Kretzschmar Claudia Backsch Anja Weise Elisabeth Klein Juergen Bogoviku Julian Westphal P. Christian Schulze Generation of human induced pluripotent stem cell lines UKJi001-A and UKJi006-A from patients with heterozygous mutation in the PKP2 gene Stem Cell Research |
| title | Generation of human induced pluripotent stem cell lines UKJi001-A and UKJi006-A from patients with heterozygous mutation in the PKP2 gene |
| title_full | Generation of human induced pluripotent stem cell lines UKJi001-A and UKJi006-A from patients with heterozygous mutation in the PKP2 gene |
| title_fullStr | Generation of human induced pluripotent stem cell lines UKJi001-A and UKJi006-A from patients with heterozygous mutation in the PKP2 gene |
| title_full_unstemmed | Generation of human induced pluripotent stem cell lines UKJi001-A and UKJi006-A from patients with heterozygous mutation in the PKP2 gene |
| title_short | Generation of human induced pluripotent stem cell lines UKJi001-A and UKJi006-A from patients with heterozygous mutation in the PKP2 gene |
| title_sort | generation of human induced pluripotent stem cell lines ukji001 a and ukji006 a from patients with heterozygous mutation in the pkp2 gene |
| url | http://www.sciencedirect.com/science/article/pii/S1873506124002630 |
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