Generation of an isogenic CRISPR/Cas9-corrected control induced pluripotent stem cell line from a patient with autosomal dominant catecholaminergic polymorphic ventricular tachycardia with a heterozygous variant in cardiac calsequestrin-2
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited cardiac disease characterised by adrenergic-induced arrhythmias. The leading causes of CPVT are pathogenic variants in cardiac ryanodine receptor 2 (RYR2) and rarely, in cardiac calsequestrin-2 (CASQ2) genes, which are majo...
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Elsevier
2025-03-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506124003489 |
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| author | Ginell N. Ranpura Mira Holliday Serena Li Samantha B. Ross Emma S. Singer Stuart T. Fraser Richard D. Bagnall Christopher Semsarian Seakcheng Lim |
| author_facet | Ginell N. Ranpura Mira Holliday Serena Li Samantha B. Ross Emma S. Singer Stuart T. Fraser Richard D. Bagnall Christopher Semsarian Seakcheng Lim |
| author_sort | Ginell N. Ranpura |
| collection | DOAJ |
| description | Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited cardiac disease characterised by adrenergic-induced arrhythmias. The leading causes of CPVT are pathogenic variants in cardiac ryanodine receptor 2 (RYR2) and rarely, in cardiac calsequestrin-2 (CASQ2) genes, which are major components of Ca2+ handling in cardiac myocytes. This resource builds upon an established induced pluripotent stem cell line generated from a family with autosomal dominant CPVT due to a heterozygous variant in CASQ2 c.539A > G, p.Lys180Arg (CIAUi003-A) (Ross et al., 2019). The current iPSC line was genetically modified using CRISPR/Cas9 to correct the pathogenic c.539A > G variant creating a CRISPR-corrected isogenic control line (CIAUi003-A-1). |
| format | Article |
| id | doaj-art-3e641b8d0dc248acb59366d7fe7f1e0d |
| institution | DOAJ |
| issn | 1873-5061 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj-art-3e641b8d0dc248acb59366d7fe7f1e0d2025-08-20T02:43:20ZengElsevierStem Cell Research1873-50612025-03-018310365010.1016/j.scr.2024.103650Generation of an isogenic CRISPR/Cas9-corrected control induced pluripotent stem cell line from a patient with autosomal dominant catecholaminergic polymorphic ventricular tachycardia with a heterozygous variant in cardiac calsequestrin-2Ginell N. Ranpura0Mira Holliday1Serena Li2Samantha B. Ross3Emma S. Singer4Stuart T. Fraser5Richard D. Bagnall6Christopher Semsarian7Seakcheng Lim8Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, Australia; Faculty of Medicine and Health, The University of Sydney, Sydney, AustraliaAgnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, Australia; Faculty of Medicine and Health, The University of Sydney, Sydney, AustraliaAgnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, Australia; Faculty of Medicine and Health, The University of Sydney, Sydney, AustraliaAgnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, Australia; Faculty of Medicine and Health, The University of Sydney, Sydney, AustraliaAgnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, Australia; Faculty of Medicine and Health, The University of Sydney, Sydney, Australia; Bioinformatics and Molecular Genetics Group at Centenary Institute, The University of Sydney, Sydney, AustraliaAgnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, AustraliaAgnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, Australia; Faculty of Medicine and Health, The University of Sydney, Sydney, Australia; Bioinformatics and Molecular Genetics Group at Centenary Institute, The University of Sydney, Sydney, AustraliaAgnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, Australia; Faculty of Medicine and Health, The University of Sydney, Sydney, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, AustraliaAgnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, Australia; Faculty of Medicine and Health, The University of Sydney, Sydney, Australia; Corresponding author.Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited cardiac disease characterised by adrenergic-induced arrhythmias. The leading causes of CPVT are pathogenic variants in cardiac ryanodine receptor 2 (RYR2) and rarely, in cardiac calsequestrin-2 (CASQ2) genes, which are major components of Ca2+ handling in cardiac myocytes. This resource builds upon an established induced pluripotent stem cell line generated from a family with autosomal dominant CPVT due to a heterozygous variant in CASQ2 c.539A > G, p.Lys180Arg (CIAUi003-A) (Ross et al., 2019). The current iPSC line was genetically modified using CRISPR/Cas9 to correct the pathogenic c.539A > G variant creating a CRISPR-corrected isogenic control line (CIAUi003-A-1).http://www.sciencedirect.com/science/article/pii/S1873506124003489 |
| spellingShingle | Ginell N. Ranpura Mira Holliday Serena Li Samantha B. Ross Emma S. Singer Stuart T. Fraser Richard D. Bagnall Christopher Semsarian Seakcheng Lim Generation of an isogenic CRISPR/Cas9-corrected control induced pluripotent stem cell line from a patient with autosomal dominant catecholaminergic polymorphic ventricular tachycardia with a heterozygous variant in cardiac calsequestrin-2 Stem Cell Research |
| title | Generation of an isogenic CRISPR/Cas9-corrected control induced pluripotent stem cell line from a patient with autosomal dominant catecholaminergic polymorphic ventricular tachycardia with a heterozygous variant in cardiac calsequestrin-2 |
| title_full | Generation of an isogenic CRISPR/Cas9-corrected control induced pluripotent stem cell line from a patient with autosomal dominant catecholaminergic polymorphic ventricular tachycardia with a heterozygous variant in cardiac calsequestrin-2 |
| title_fullStr | Generation of an isogenic CRISPR/Cas9-corrected control induced pluripotent stem cell line from a patient with autosomal dominant catecholaminergic polymorphic ventricular tachycardia with a heterozygous variant in cardiac calsequestrin-2 |
| title_full_unstemmed | Generation of an isogenic CRISPR/Cas9-corrected control induced pluripotent stem cell line from a patient with autosomal dominant catecholaminergic polymorphic ventricular tachycardia with a heterozygous variant in cardiac calsequestrin-2 |
| title_short | Generation of an isogenic CRISPR/Cas9-corrected control induced pluripotent stem cell line from a patient with autosomal dominant catecholaminergic polymorphic ventricular tachycardia with a heterozygous variant in cardiac calsequestrin-2 |
| title_sort | generation of an isogenic crispr cas9 corrected control induced pluripotent stem cell line from a patient with autosomal dominant catecholaminergic polymorphic ventricular tachycardia with a heterozygous variant in cardiac calsequestrin 2 |
| url | http://www.sciencedirect.com/science/article/pii/S1873506124003489 |
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