Generation of human induced pluripotent stem cell lines from patients with a RYR2 gene variant c.14201A>G (p.Y4734C): Implications for idiopathic ventricular fibrillation and catecholaminergic polymorphic ventricular tachycardia
Language English Country Great Britain, England Media print-electronic
Document type Journal Article, Research Support, Non-U.S. Gov't
PubMed
39180845
DOI
10.1016/j.scr.2024.103541
PII: S1873-5061(24)00239-3
Knihovny.cz E-resources
- MeSH
- Cell Differentiation MeSH
- Cell Line MeSH
- Adult MeSH
- Ventricular Fibrillation * genetics MeSH
- Induced Pluripotent Stem Cells * metabolism MeSH
- Polymorphic Catecholaminergic Ventricular Tachycardia MeSH
- Tachycardia, Ventricular * genetics metabolism MeSH
- Humans MeSH
- Ryanodine Receptor Calcium Release Channel * genetics metabolism MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Names of Substances
- Ryanodine Receptor Calcium Release Channel * MeSH
- RyR2 protein, human MeSH Browser
Human induced pluripotent stem cell (iPSC) lines were generated from peripheral blood mononuclear cells (PBMCs) isolated from two related patients diagnosed with either idiopathic ventricular fibrillation or catecholaminergic polymorphic ventricular tachycardia, carrying an unknown variant in the RYR2 gene, c.14201A>G (p.Y4734C) and one healthy related individual. Reprogramming was done using a commercially available Epi5 Reprogramming Kit. The pluripotency of the iPSC lines was verified by the expression of pluripotency markers and by their capacity to differentiate into all three embryonic germ layers in vitro. These iPSC lines are available for functional analysis and in vitro studies of RYR2 channelopathy.
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