Defects & Disease

We are generating cardiac disease models using human iPSCs and animal systems to study heart defects and disease. By using these models, we aim to elucidate disease mechanisms and support the development of new therapies. Through this work, we hope to advance translational cardiac research.

SEME Enables Programmable Transcript Reconstruction through Synthetic Microexon Incorporation

Go M, Oh J, Moon S, Chen E, Kim B, Suh D, Kim S*, Kwon C*, Lee SH*

bioRxiv 2026

Desmoglein-2 Deficiency Drives Mitochondrial Morphological Remodeling in Cardiomyocytes

Goncalves A, Chen E, Rastegarpouyani H, Araujo Fernandes A, N Alves I, Sequeira V, Kwon C, Chelko SP, Landim-Vieira M

Am J Physiolg Heart Circ Physiol. 2026

In Vivo Bioreactor Matures iPSC-CMs for MLP Disease Modeling

Murphy SA, Cho G, Limphong P, Lee DI, Kwon C

bioRxiv 2025

Limitations of Ferroptosis Inhibitors on the Doxorubicin-Induced Cardiotoxicity

Cha YJ, Jeon SB, Lee CJ, Kim HJ, Lee SH, Kim H, Park SH, Chen EZ, Kim JW, Park SW, Kwon C, Joung B, Lee EW, Lee S

Antioxidants 2025

Inhibition of TBL1 Cleavage Alleviates Doxorubicin-Induced Cardiomyocytes Death by Regulating the Wnt/Beta-catenin Signal Pathway

Lee SH, Lee J, Oh J, Hwang JT, Lee HJ, Byun HK, Kim HJ, Suh D, Yoon HG, Park SW, Kang SM, Kwon C, Lee SH, Choi HK

Cardiovascular Research 2024

Generation of an Induced Pluripotent Stem Cell Line from a Patient with Arrhythmogenic Right Ventricular Cardiomyopathy Harboring a TMEM43 Splice-Site Varient

Lee SH, Lim G, Kim H, Suh D, Choi HK, Kim HP, Yoon HG, Park SW, Kang SM, Kwon C, Oh J, Lee SH

Stem Cell Research 2024

Multiplatform Modeling of Atrial Fibrillation Identifies Phospholamban as a Central Regulator of Cardiac Rhythm

Kervadec A, Kezos J, Ni H, Yu M, Marchant J, Spiering S, Kannan S, Kwon C, Andersen P, Bodmer R, Grandi E, Ocorr K, Colas AR

Disease Models & Mechanisms 2023

Human Induced Pluripotenet Stem Cell Line YCMi007-A Generated from a Dilated Cardiomyopathy Patient with a Heterozygous Dominant c.613C>T(p.Arg205Trp) Variant of the TNNT2 Gene

Jeon SB, Kim H, Chun KH, Oh J, Kwon C, Choi HK, Kim S, Kim HP, Kim IC, Yoo JY, Park SW, Kang SM, Lee SH

Stem Cell Research 2023

A Mouse Model with Complete Penetrance for Atrioventricular Septal Defect/Complete AV Canal

Li Y, Andersen P, Liu X, Moyer AJ, Kwon C*, Reeves R*

bioRxiv 2022

Exercise Triggers CAPN1-Mediated AIF Truncation, Inducing Myocyte Cell Death in Arrhythmogenic Cardiomyopathy

Chelko SP, Keceli G, Carpi A, Doti N, Agrimi J, Asimaki A, Beti CB, Miyamoto M, Amat-Codina N, Bedja D, Wei AC, Murray B, Tichnell C, Kwon C, Calkins H, James CA, O'Rourke B, Halushka MK, Melloni E, Saffitz JE, Judge DP, Ruvo M, Kitsis RN, Andersen P, Di Lisa F, Paolocci N

Science Translational Medicine 2021

Neonatal Transplantation Confers Maturation of PSC-Derived Cardiomyocytes Conducive to Modeling Cardiomyopathy

Cho GS, Lee DI, Tampakakis E, Murphy S, Andersen P, Uosaki H, Chelko S, Chakir K, Hong I, Seo K, Chen HV, Chen X, Basso C, Houser SR, Tomaselli GF, O'Rourke B, Judge DP, Kass DA*, Kwon C*

Cell Reports 2017

Phosphodiesterase 9A Controls Nitric-Oxide-Independent cGMP and Hypertrophic Heart Disease

Lee DI, Zhu G, Sasaki T, Cho GS, Hamdani N, Holewinski R, Jo SH, Danner T, Zhang M, Rainer PP, Bedja D, Kirk JA, Ranek MJ, Dostmann WR, Kwon C, Margulies KB, Van Eyk JE, Paulus WJ, Takimoto E, Kass DA

Nature 2015

Mutations in Alström Protein Impair Terminal Differentiation of Cardiomyocytes

Shenje LT, Andersen P, Halushka MK, Lui C, Fernandez L, Collin GB, Amat-Alarcon N, Meschino W, Cutz E, Chang K, Yonescu R, Batista DA, Chen Y, Chelko S, Crosson JE, Scheel J, Vricella L, Craig BD, Marosy BA, Mohr DW, Hetrick KN, Romm JM, Scott AF, Valle D, Naggert JK, Kwon C, Doheny KF, Judge DP

Nature Communications 2014

Defects & Disease ​

Defects & Disease