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

• Autoři: ÇELIKER Canan; ZELENÁK Štefan; LIETAVA Samuel; PACHERNÍK Jiří; BÉBAROVÁ Markéta; ZÍDKOVÁ Jana; NOVOTNÝ Tomáš; BÁRTA Tomáš
• Rok publikování: 2024
• Druh: Článek v odborném periodiku
• Časopis / Zdroj: Stem cell research
• Fakulta / Pracoviště MU: Lékařská fakulta
• www: https://www.sciencedirect.com/science/article/pii/S1873506124002393?via%3Dihub
• Doi: http://dx.doi.org/10.1016/j.scr.2024.103541
• Klíčová slova: human induced pluripotent stem cell lines; RYR2
• Popis: 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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