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

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F65269705%3A_____%2F24%3A00080332" target="_blank" >RIV/65269705:_____/24:00080332 - isvavai.cz</a>
Alternative codes found
RIV/00216224:14110/24:00137190
Result on the web
<a href="https://www.sciencedirect.com/science/article/pii/S1873506124002393" target="_blank" >https://www.sciencedirect.com/science/article/pii/S1873506124002393</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.scr.2024.103541" target="_blank" >10.1016/j.scr.2024.103541</a>

Result language
angličtina
Original language name
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
Original language description
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.
Czech name
—
Czech description
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Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
10601 - Cell biology

Project
<a href="/en/project/NU22-02-00348" target="_blank" >NU22-02-00348: Functional assessment of genetic variants in clinically “true” cases of idiopathic ventricular fibrillation: in vitro and in silico modelling to reveal the arrhythmogenic mechanism</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year
2024
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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