Literature DB >> 34954454

Generation of three iPSC lines from dilated cardiomyopathy patients carrying a pathogenic LMNA variant.

Chelsea Lee1, Sangkyun Cho1, Celine Lai1, Sushma Shenoy1, Randall Vagelos1, Joseph C Wu2.   

Abstract

LMNA-related dilated cardiomyopathy (DCM) is caused by pathogenic variants in LMNA and is characterized by left ventricular enlargement, reduced systolic function, and arrhythmia. Here, we generated three human induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells (PBMCs) of three DCM patients carrying the same single heterozygous mutation, c.1129C > T, in LMNA. All lines expressed normal iPSC morphology, high levels of pluripotent markers, normal karyotypes, and could differentiate into the three germ layers. These iPSC lines can serve as invaluable tools to model pathological mechanisms of DCM in vitro caused by LMNA mutations.
Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.

Entities:  

Year:  2021        PMID: 34954454      PMCID: PMC9436418          DOI: 10.1016/j.scr.2021.102638

Source DB:  PubMed          Journal:  Stem Cell Res        ISSN: 1873-5061            Impact factor:   1.587


  5 in total

1.  Genetic Risk of Arrhythmic Phenotypes in Patients With Dilated Cardiomyopathy.

Authors:  Marta Gigli; Marco Merlo; Sharon L Graw; Giulia Barbati; Teisha J Rowland; Dobromir B Slavov; Davide Stolfo; Mary E Haywood; Matteo Dal Ferro; Alessandro Altinier; Federica Ramani; Francesca Brun; Andrea Cocciolo; Ilaria Puggia; Gaetano Morea; William J McKenna; Francisco G La Rosa; Matthew R G Taylor; Gianfranco Sinagra; Luisa Mestroni
Journal:  J Am Coll Cardiol       Date:  2019-09-17       Impact factor: 24.094

Review 2.  Reconstructing the heart using iPSCs: Engineering strategies and applications.

Authors:  Sangkyun Cho; Chelsea Lee; Mark A Skylar-Scott; Sarah C Heilshorn; Joseph C Wu
Journal:  J Mol Cell Cardiol       Date:  2021-04-22       Impact factor: 5.000

3.  Mechanosensing by the Lamina Protects against Nuclear Rupture, DNA Damage, and Cell-Cycle Arrest.

Authors:  Sangkyun Cho; Manasvita Vashisth; Amal Abbas; Stephanie Majkut; Kenneth Vogel; Yuntao Xia; Irena L Ivanovska; Jerome Irianto; Manorama Tewari; Kuangzheng Zhu; Elisia D Tichy; Foteini Mourkioti; Hsin-Yao Tang; Roger A Greenberg; Benjamin L Prosser; Dennis E Discher
Journal:  Dev Cell       Date:  2019-05-16       Impact factor: 13.417

4.  Activation of PDGF pathway links LMNA mutation to dilated cardiomyopathy.

Authors:  Jaecheol Lee; Vittavat Termglinchan; Sebastian Diecke; Ilanit Itzhaki; Chi Keung Lam; Priyanka Garg; Edward Lau; Matthew Greenhaw; Timon Seeger; Haodi Wu; Joe Z Zhang; Xingqi Chen; Isaac Perea Gil; Mohamed Ameen; Karim Sallam; June-Wha Rhee; Jared M Churko; Rinkal Chaudhary; Tony Chour; Paul J Wang; Michael P Snyder; Howard Y Chang; Ioannis Karakikes; Joseph C Wu
Journal:  Nature       Date:  2019-07-17       Impact factor: 49.962

Review 5.  Dilated cardiomyopathy.

Authors:  Heinz-Peter Schultheiss; DeLisa Fairweather; Alida L P Caforio; Felicitas Escher; Ray E Hershberger; Steven E Lipshultz; Peter P Liu; Akira Matsumori; Andrea Mazzanti; John McMurray; Silvia G Priori
Journal:  Nat Rev Dis Primers       Date:  2019-05-09       Impact factor: 65.038

  5 in total

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