Literature DB >> 34999423

Heterozygous LMNA mutation-carrying iPSC lines from three cardiac laminopathy patients.

Sangkyun Cho1, Chelsea Lee1, Celine Lai1, Yan Zhuge2, Francois Haddad3, Michael Fowler3, Karim Sallam3, Joseph C Wu4.   

Abstract

LMNA-related dilated cardiomyopathy (LMNA-DCM) is caused by pathogenic variants in the LMNA gene and is characterized by left ventricular chamber 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.398 G > A, in LMNA. All lines exhibited normal iPSC morphology, expressed high levels of pluripotency markers, showed normal karyotypes, and could differentiate into the three germ layers. These patient-specific iPSC lines can serve as invaluable tools to model in vitro pathological mechanisms of LMNA-DCM.
Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.

Entities:  

Year:  2022        PMID: 34999423      PMCID: PMC9250545          DOI: 10.1016/j.scr.2022.102657

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


  5 in total

Review 1.  Lamin A/C mutations in dilated cardiomyopathy.

Authors:  Frédérique Tesson; Michal Saj; Musfira Mohamed Uvaize; Hannah Nicolas; Rafał Płoski; Zofia Bilińska
Journal:  Cardiol J       Date:  2014-05-20       Impact factor: 2.737

2.  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

3.  Clinical trial in a dish using iPSCs shows lovastatin improves endothelial dysfunction and cellular cross-talk in LMNA cardiomyopathy.

Authors:  Nazish Sayed; Chun Liu; Mohamed Ameen; Farhan Himmati; Joe Z Zhang; Saereh Khanamiri; Jan-Renier Moonen; Alexa Wnorowski; Linling Cheng; June-Wha Rhee; Sadhana Gaddam; Kevin C Wang; Karim Sallam; Jack H Boyd; Y Joseph Woo; Marlene Rabinovitch; Joseph C Wu
Journal:  Sci Transl Med       Date:  2020-07-29       Impact factor: 17.956

4.  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

5.  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

  5 in total

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