Induced pluripotent stem cells: at the heart of cardiovascular precision medicine

IY Chen, E Matsa, JC Wu - Nature Reviews Cardiology, 2016 - nature.com
The advent of human induced pluripotent stem cell (hiPSC) technology has revitalized the
efforts in the past decade to realize more fully the potential of human embryonic stem cells …

[HTML][HTML] Large-scale mutational analysis of Kv11. 1 reveals molecular insights into type 2 long QT syndrome

CL Anderson, CE Kuzmicki, RR Childs, CJ Hintz… - Nature …, 2014 - nature.com
It has been suggested that deficient protein trafficking to the cell membrane is the dominant
mechanism associated with type 2 Long QT syndrome (LQT2) caused by Kv11. 1 potassium …

Isogenic human pluripotent stem cell pairs reveal the role of a KCNH2 mutation in long‐QT syndrome

M Bellin, S Casini, RP Davis, C D'aniello, J Haas… - The EMBO …, 2013 - embopress.org
Patient‐specific induced pluripotent stem cells (iPSCs) will assist research on genetic
cardiac maladies if the disease phenotype is recapitulated in vitro. However, genetic …

Genome editing of induced pluripotent stem cells to decipher cardiac channelopathy variant

P Garg, A Oikonomopoulos, H Chen, Y Li… - Journal of the American …, 2018 - jacc.org
Background: The long QT syndrome (LQTS) is an arrhythmogenic disorder of QT interval
prolongation that predisposes patients to life-threatening ventricular arrhythmias such as …

Human induced pluripotent stem cell–derived cardiomyocytes as models for cardiac channelopathies: a primer for non-electrophysiologists

P Garg, V Garg, R Shrestha, MC Sanguinetti… - Circulation …, 2018 - Am Heart Assoc
Life threatening ventricular arrhythmias leading to sudden cardiac death are a major cause
of morbidity and mortality. In the absence of structural heart disease, these arrhythmias …

[HTML][HTML] Modeling cardiovascular diseases with hiPSC-derived cardiomyocytes in 2D and 3D cultures

C Sacchetto, L Vitiello, LJ de Windt… - International journal of …, 2020 - mdpi.com
In the last decade, the generation of cardiac disease models based on human-induced
pluripotent stem cells (hiPSCs) has become of common use, providing new opportunities to …

Suppression-Replacement KCNQ1 Gene Therapy for Type 1 Long QT Syndrome

SM Dotzler, CSJ Kim, WAC Gendron, W Zhou, D Ye… - Circulation, 2021 - Am Heart Assoc
Background: Type 1 long QT syndrome (LQT1) is caused by loss-of-function variants in the
KCNQ1-encoded Kv7. 1 potassium channel α-subunit that is essential for cardiac …

[HTML][HTML] Physical developmental cues for the maturation of human pluripotent stem cell-derived cardiomyocytes

R Zhu, A Blazeski, E Poon, KD Costa, L Tung… - Stem cell research & …, 2014 - Springer
Human pluripotent stem cell-derived cardiomyocytes (hPSC-CMs) are the most promising
source of cardiomyocytes (CMs) for experimental and clinical applications, but their use is …

[HTML][HTML] Barth syndrome: from mitochondrial dysfunctions associated with aberrant production of reactive oxygen species to pluripotent stem cell studies

A Saric, K Andreau, AS Armand, IM Møller… - Frontiers in …, 2016 - frontiersin.org
Mutations in the gene encoding the enzyme tafazzin, TAZ, cause Barth syndrome (BTHS).
Individuals with this X-linked multisystem disorder present cardiomyopathy (CM)(often …

Human induced pluripotent stem cells as a platform for personalized and precision cardiovascular medicine

E Matsa, JH Ahrens, JC Wu - Physiological Reviews, 2016 - journals.physiology.org
Human induced pluripotent stem cells (hiPSCs) have revolutionized the field of human
disease modeling, with an enormous potential to serve as paradigm shifting platforms for …