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

J 2024

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

ÇELIKER, Canan; Štefan ZELENÁK; Samuel LIETAVA; Jiří PACHERNÍK; Markéta BÉBAROVÁ et. al.

Základní údaje

Originální název

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; Štefan ZELENÁK; Samuel LIETAVA; Jiří PACHERNÍK; Markéta BÉBAROVÁ ; Jana ZÍDKOVÁ ; Tomáš NOVOTNÝ a Tomáš BÁRTA

Vydání

Stem cell research, Amsterdam, Elsevier, 2024, 1873-5061

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

10601 Cell biology

Stát vydavatele

Nizozemské království

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 0.700

Kód RIV

RIV/00216224:14110/24:00137190

Organizační jednotka

Lékařská fakulta

DOI

https://doi.org/10.1016/j.scr.2024.103541

UT WoS

001302477700001

EID Scopus

2-s2.0-85201767014

Klíčová slova anglicky

human induced pluripotent stem cell lines; RYR2

Štítky

14110211, 14110212, 14110515, 14110517, podil, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 26. 3. 2025 13:04, Mgr. Tereza Miškechová

Anotace

V originále

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.

Návaznosti

MUNI/A/1598/2023, interní kód MU

Název: Zdroje pro tkáňové inženýrství 14

Investor: Masarykova univerzita, Zdroje pro tkáňové inženýrství 14

NU22-02-00348, projekt VaV

Název: Funkční hodnocení genetických variant u případů klinicky „skutečné“ idiopatické fibrilace komor: in vitro a in silico modelování s cílem odhalit arytmogenní mechanismus

Investor: Ministerstvo zdravotnictví ČR, Funkční hodnocení genetických variant u případů klinicky „skutečné“ idiopatické fibrilace komor: in vitro a in silico modelování s cílem odhalit arytmogenní mechanismus, Podprogram 1 - standardní

Citovat

ÇELIKER, Canan; Štefan ZELENÁK; Samuel LIETAVA; Jiří PACHERNÍK; Markéta BÉBAROVÁ; Jana ZÍDKOVÁ; Tomáš NOVOTNÝ a Tomáš BÁRTA. 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. Stem cell research. Amsterdam: Elsevier, 2024, roč. 81, December 2024, s. 1-5. ISSN 1873-5061. Dostupné z: https://doi.org/10.1016/j.scr.2024.103541.

@article{2436157,
   author = {Çeliker, Canan and Zelenák, Štefan and Lietava, Samuel and Pacherník, Jiří and Bébarová, Markéta and Zídková, Jana and Novotný, Tomáš and Bárta, Tomáš},
   article_location = {Amsterdam},
   article_number = {December 2024},
   doi = {https://doi.org/10.1016/j.scr.2024.103541},
   keywords = {human induced pluripotent stem cell lines; RYR2},
   language = {eng},
   issn = {1873-5061},
   journal = {Stem cell research},
   title = {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},
   url = {https://www.sciencedirect.com/science/article/pii/S1873506124002393?via%3Dihub},
   volume = {81},
   year = {2024}
}

TY  - JOUR
ID  - 2436157
AU  - Çeliker, Canan - Zelenák, Štefan - Lietava, Samuel - Pacherník, Jiří - Bébarová, Markéta - Zídková, Jana - Novotný, Tomáš - Bárta, Tomáš
PY  - 2024
TI  - 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
JF  - Stem cell research
VL  - 81
IS  - December 2024
SP  - 1-5
EP  - 1-5
PB  - Elsevier
SN  - 18735061
KW  - human induced pluripotent stem cell lines
KW  - RYR2
UR  - https://www.sciencedirect.com/science/article/pii/S1873506124002393?via%3Dihub
N2  - 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.
ER  -

$\backslash$C CELIKER, Canan; Štefan ZELENÁK; Samuel LIETAVA; Jiří PACHERNÍK; Markéta BÉBAROVÁ; Jana ZÍDKOVÁ; Tomáš NOVOTNÝ a Tomáš BÁRTA. Generation of human induced pluripotent stem cell lines from patients with a RYR2 gene variant c.14201A\&{}gt;G (p.Y4734C): Implications for idiopathic ventricular fibrillation and catecholaminergic polymorphic ventricular tachycardia. \textit{Stem cell research}. Amsterdam: Elsevier, 2024, roč.~81, December 2024, s.~1-5. ISSN~1873-5061. Dostupné z: https://doi.org/10.1016/j.scr.2024.103541.

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