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.

Basic information

Original 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

Authors

ÇELIKER, Canan (792 Turkey, belonging to the institution), Štefan ZELENÁK (703 Slovakia, belonging to the institution), Samuel LIETAVA (703 Slovakia, belonging to the institution), Jiří PACHERNÍK (203 Czech Republic, belonging to the institution), Markéta BÉBAROVÁ (203 Czech Republic, belonging to the institution), Jana ZÍDKOVÁ (203 Czech Republic, belonging to the institution), Tomáš NOVOTNÝ (203 Czech Republic, belonging to the institution) and Tomáš BÁRTA (203 Czech Republic, belonging to the institution)

Edition

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

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

10601 Cell biology

Country of publisher

Netherlands

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 1.200 in 2022

Organization unit

Faculty of Medicine

DOI

http://dx.doi.org/10.1016/j.scr.2024.103541

UT WoS

001302477700001

Keywords in English

human induced pluripotent stem cell lines; RYR2

Abstract

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.

Links

MUNI/A/1598/2023, interní kód MU

Name: Zdroje pro tkáňové inženýrství 14

Investor: Masaryk University, Resources pro tissue engineering 14

NU22-02-00348, research and development project

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

Investor: Ministry of Health of the CR, Subprogram 1 - standard

Citovat

ÇELIKER, Canan, Štefan ZELENÁK, Samuel LIETAVA, Jiří PACHERNÍK, Markéta BÉBAROVÁ, Jana ZÍDKOVÁ, Tomáš NOVOTNÝ and 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, vol. 81, December 2024, p. 1-5. ISSN 1873-5061. Available from: https://dx.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 = {http://dx.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 and 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, vol.~81, December 2024, p.~1-5. ISSN~1873-5061. Available from: https://dx.doi.org/10.1016/j.scr.2024.103541.

Detailed Information on Publication Record