Generation of an iPSC cell line (VANYHHi001-A) from a patient with cardiac arrythmias carrying CACNA1D, SCN5A, and DSP variants
Progressive cardiac conduction defect often associated with variants in sodium voltage-gated channel SCN5A gene and variants in the L-type calcium voltage-gated channel CACNA1D gene are implicated in sinoatrial node dysfunction. We generated an induced pluripotent stem cell line (iPSC) from a 13-yea...
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Elsevier
2024-12-01
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| Series: | Stem Cell Research |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506124003064 |
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| author | Yvonne Sleiman Jean-Baptiste Reisqs Reina Bianca Tan Frank Cecchin Mohamed Chahine Mohamed Boutjdir |
| author_facet | Yvonne Sleiman Jean-Baptiste Reisqs Reina Bianca Tan Frank Cecchin Mohamed Chahine Mohamed Boutjdir |
| author_sort | Yvonne Sleiman |
| collection | DOAJ |
| description | Progressive cardiac conduction defect often associated with variants in sodium voltage-gated channel SCN5A gene and variants in the L-type calcium voltage-gated channel CACNA1D gene are implicated in sinoatrial node dysfunction. We generated an induced pluripotent stem cell line (iPSC) from a 13-year-old patient with history of conduction system disease and ventricular tachycardia, carrying variants in SCN5A (c.2618C > G), CACNA1D (c.3786G > T), and DSP (c.1582C > G). The generated iPSC line exhibited pluripotency markers, differentiated into the three embryonic germ layers, and maintained a normal karyotype. This iPSC line offers insights into the pathophysiological mechanisms of cardiac arrhythmias and personalized therapies development. |
| format | Article |
| id | doaj-art-2f16ff1b252244dbbb220f32bfc809b1 |
| institution | DOAJ |
| issn | 1873-5061 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj-art-2f16ff1b252244dbbb220f32bfc809b12025-08-20T02:49:53ZengElsevierStem Cell Research1873-50612024-12-018110360810.1016/j.scr.2024.103608Generation of an iPSC cell line (VANYHHi001-A) from a patient with cardiac arrythmias carrying CACNA1D, SCN5A, and DSP variantsYvonne Sleiman0Jean-Baptiste Reisqs1Reina Bianca Tan2Frank Cecchin3Mohamed Chahine4Mohamed Boutjdir5Cardiovascular Research Program, VA New York Harbor Healthcare System, NY, USACardiovascular Research Program, VA New York Harbor Healthcare System, NY, USADivision of Pediatric Cardiology, Department of Pediatrics, NYU Grossman School of Medicine, NY, USADivision of Pediatric Cardiology, Department of Pediatrics, NYU Grossman School of Medicine, NY, USADepartment of Medicine, Faculty of Medicine, Université Laval, Quebec City, QC G1V 06A, Canada; CERVO Brain Research Centre, Institut Universitaire en Santé Mentale de Québec, Quebec City, CanadaCardiovascular Research Program, VA New York Harbor Healthcare System, NY, USA; Department of Medicine, Cell Biology and Pharmacology, State University of New York Downstate Health Sciences University, NY, USA; Department of Medicine, New York University Grossman School of Medicine, NY, USA; Corresponding author at: VA New York Harbor Healthcare System, Research and Development Office (151), 800 Poly Place, Brooklyn, New York 11209, USA.Progressive cardiac conduction defect often associated with variants in sodium voltage-gated channel SCN5A gene and variants in the L-type calcium voltage-gated channel CACNA1D gene are implicated in sinoatrial node dysfunction. We generated an induced pluripotent stem cell line (iPSC) from a 13-year-old patient with history of conduction system disease and ventricular tachycardia, carrying variants in SCN5A (c.2618C > G), CACNA1D (c.3786G > T), and DSP (c.1582C > G). The generated iPSC line exhibited pluripotency markers, differentiated into the three embryonic germ layers, and maintained a normal karyotype. This iPSC line offers insights into the pathophysiological mechanisms of cardiac arrhythmias and personalized therapies development.http://www.sciencedirect.com/science/article/pii/S1873506124003064Progressive cardiac conduction defectSinoatrial node dysfunctionInduced pluripotent stem cellsSCN5ACACNA1DDSP |
| spellingShingle | Yvonne Sleiman Jean-Baptiste Reisqs Reina Bianca Tan Frank Cecchin Mohamed Chahine Mohamed Boutjdir Generation of an iPSC cell line (VANYHHi001-A) from a patient with cardiac arrythmias carrying CACNA1D, SCN5A, and DSP variants Stem Cell Research Progressive cardiac conduction defect Sinoatrial node dysfunction Induced pluripotent stem cells SCN5A CACNA1D DSP |
| title | Generation of an iPSC cell line (VANYHHi001-A) from a patient with cardiac arrythmias carrying CACNA1D, SCN5A, and DSP variants |
| title_full | Generation of an iPSC cell line (VANYHHi001-A) from a patient with cardiac arrythmias carrying CACNA1D, SCN5A, and DSP variants |
| title_fullStr | Generation of an iPSC cell line (VANYHHi001-A) from a patient with cardiac arrythmias carrying CACNA1D, SCN5A, and DSP variants |
| title_full_unstemmed | Generation of an iPSC cell line (VANYHHi001-A) from a patient with cardiac arrythmias carrying CACNA1D, SCN5A, and DSP variants |
| title_short | Generation of an iPSC cell line (VANYHHi001-A) from a patient with cardiac arrythmias carrying CACNA1D, SCN5A, and DSP variants |
| title_sort | generation of an ipsc cell line vanyhhi001 a from a patient with cardiac arrythmias carrying cacna1d scn5a and dsp variants |
| topic | Progressive cardiac conduction defect Sinoatrial node dysfunction Induced pluripotent stem cells SCN5A CACNA1D DSP |
| url | http://www.sciencedirect.com/science/article/pii/S1873506124003064 |
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