Generation of human induced pluripotent stem cell line carrying SCN5AC2204&gt;T Brugada mutation (MUSli009-A-1) introduced by CRISPR/Cas9-mediated genome editing

Angsutararux, Paweorn; Luanpitpong, Sudjit; Chingsuwanrote, Pimjai; Supraditaporn, Kantpitchar; Waeteekul, Supaporn; Terbto, Papussorn; Lorthongpanich, Chanchao; Laowtammathron, Chuti; U-Pratya, Yaowalak; Issaragrisil, Surapol

doi:10.1016/j.scr.2019.101618

Cited by 3 publications

(1 citation statement)

References 4 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…However, HiPSC-derived myocytes from patients with defined mutations using VARRÓ ET AL. 1116 Physiol Rev VOL 101 JULY 2021 www.prv.org CRISPR/Cas9-edited cells can mimic diseases (688,(695)(696)(697)(698) that are often hard or impossible to recreate properly in animal experiments. Recent efforts to culture and continuously pace HiPSC-derived cardiomyocytes cultured in collagen gels as "engineered heart tissue" represent a new two-dimensional (2-D) and threedimensional (3-D) approach (699-701), since it resembles more the mature myocardium.…”

Section: Species-dependent Differences In Action Potentialsmentioning

confidence: 99%

Cardiac transmembrane ion channels and action potentials: cellular physiology and arrhythmogenic behavior

Varró

Tomek

Nagy

et al. 2021

Physiological Reviews

119

View full text Add to dashboard Cite

Cardiac arrhythmias are among the leading causes of mortality. They often arise from alterations in the electrophysiological properties of cardiac cells, and their underlying ionic mechanisms. It is therefore critical to further unravel the patho-physiology of the ionic basis of human cardiac electrophysiology in health and disease. In the first part of this review, current knowledge on the differences in ion channel expression and properties of the ionic processes that determine the morphology and properties of cardiac action potentials and calcium dynamics from cardiomyocytes in different regions of the heart are described. Then the cellular mechanisms promoting arrhythmias in congenital or acquired conditions of ion channel function (electrical remodelling) are discussed. The focus is human relevant findings obtained with clinical, experimental and computational studies, given that interspecies differences make the extrapolation from animal experiments to the human clinical settings difficult. Deepening the understanding of the diverse patholophysiology of human cellular electrophysiology will help developing novel and effective antiarrhythmic strategies for specific subpopulations and disease conditions.

show abstract

Section: Species-dependent Differences In Action Potentialsmentioning

confidence: 99%

Cardiac transmembrane ion channels and action potentials: cellular physiology and arrhythmogenic behavior

Varró

Tomek

Nagy

et al. 2021

Physiological Reviews

119

View full text Add to dashboard Cite

show abstract

Inherited and Acquired Rhythm Disturbances in Sick Sinus Syndrome, Brugada Syndrome, and Atrial Fibrillation: Lessons from Preclinical Modeling

Iop

Iliceto

Civieri

et al. 2021

Cells

View full text Add to dashboard Cite

Rhythm disturbances are life-threatening cardiovascular diseases, accounting for many deaths annually worldwide. Abnormal electrical activity might arise in a structurally normal heart in response to specific triggers or as a consequence of cardiac tissue alterations, in both cases with catastrophic consequences on heart global functioning. Preclinical modeling by recapitulating human pathophysiology of rhythm disturbances is fundamental to increase the comprehension of these diseases and propose effective strategies for their prevention, diagnosis, and clinical management. In silico, in vivo, and in vitro models found variable application to dissect many congenital and acquired rhythm disturbances. In the copious list of rhythm disturbances, diseases of the conduction system, as sick sinus syndrome, Brugada syndrome, and atrial fibrillation, have found extensive preclinical modeling. In addition, the electrical remodeling as a result of other cardiovascular diseases has also been investigated in models of hypertrophic cardiomyopathy, cardiac fibrosis, as well as arrhythmias induced by other non-cardiac pathologies, stress, and drug cardiotoxicity. This review aims to offer a critical overview on the effective ability of in silico bioinformatic tools, in vivo animal studies, in vitro models to provide insights on human heart rhythm pathophysiology in case of sick sinus syndrome, Brugada syndrome, and atrial fibrillation and advance their safe and successful translation into the cardiology arena.

show abstract

Automated Patch-Clamp and Induced Pluripotent Stem Cell-Derived Cardiomyocytes: A Synergistic Approach in the Study of Brugada Syndrome

Melgari

Calamaio

Frosio

et al. 2023

IJMS

View full text Add to dashboard Cite

The development of high-throughput automated patch-clamp technology is a recent breakthrough in the field of Brugada syndrome research. Brugada syndrome is a heart disorder marked by abnormal electrocardiographic readings and an elevated risk of sudden cardiac death due to arrhythmias. Various experimental models, developed either in animals, cell lines, human tissue or computational simulation, play a crucial role in advancing our understanding of this condition, and developing effective treatments. In the perspective of the pathophysiological role of ion channels and their pharmacology, automated patch-clamp involves a robotic system that enables the simultaneous recording of electrical activity from multiple single cells at once, greatly improving the speed and efficiency of data collection. By combining this approach with the use of patient-derived cardiomyocytes, researchers are gaining a more comprehensive view of the underlying mechanisms of heart disease. This has led to the development of more effective treatments for those affected by cardiovascular conditions.

show abstract

Generation of human induced pluripotent stem cell line carrying SCN5AC2204>T Brugada mutation (MUSli009-A-1) introduced by CRISPR/Cas9-mediated genome editing

Cited by 3 publications

References 4 publications

Cardiac transmembrane ion channels and action potentials: cellular physiology and arrhythmogenic behavior

Cardiac transmembrane ion channels and action potentials: cellular physiology and arrhythmogenic behavior

Inherited and Acquired Rhythm Disturbances in Sick Sinus Syndrome, Brugada Syndrome, and Atrial Fibrillation: Lessons from Preclinical Modeling

Automated Patch-Clamp and Induced Pluripotent Stem Cell-Derived Cardiomyocytes: A Synergistic Approach in the Study of Brugada Syndrome

Contact Info

Product

Resources

About