Literature DB >> 34798544

Generation of three induced pluripotent stem cell lines from hypertrophic cardiomyopathy patients carrying TNNI3 mutations.

Shane Rui Zhao1, Mengcheng Shen1, Chelsea Lee1, Yanjun Zha1, Julio V Guevara1, Matthew T Wheeler2, Joseph C Wu3.   

Abstract

Hypertrophic cardiomyopathy (HCM) is a common inherited heart disease with a prevalence of about 0.2%. HCM is typically caused by mutations in genes encoding sarcomere or sarcomere-associated proteins. Here, we characterized induced pluripotent stem cell (iPSC) lines generated from the peripheral blood mononuclear cells of three HCM patients each carrying c.433C > T, c.610C > T, or c.235C > T mutation in the TNNI3 gene by non-integrated Sendai virus. All of the three lines exhibited normal morphology, expression of pluripotent markers, stable karyotype, and the potential of trilineage differentiation. The cardiomyocytes differentiated from these iPSC lines can serve as useful tools to model HCM in vitro.
Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.

Entities:  

Year:  2021        PMID: 34798544      PMCID: PMC9095754          DOI: 10.1016/j.scr.2021.102597

Source DB:  PubMed          Journal:  Stem Cell Res        ISSN: 1873-5061            Impact factor:   2.020


  5 in total

1.  Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy.

Authors:  Jens Mogensen; Ross T Murphy; Toru Kubo; Ajay Bahl; James C Moon; Ib C Klausen; Perry M Elliott; William J McKenna
Journal:  J Am Coll Cardiol       Date:  2004-12-21       Impact factor: 24.094

Review 2.  Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy.

Authors:  Ali J Marian; Eugene Braunwald
Journal:  Circ Res       Date:  2017-09-15       Impact factor: 17.367

3.  Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells.

Authors:  Feng Lan; Andrew S Lee; Ping Liang; Veronica Sanchez-Freire; Patricia K Nguyen; Li Wang; Leng Han; Michelle Yen; Yongming Wang; Ning Sun; Oscar J Abilez; Shijun Hu; Antje D Ebert; Enrique G Navarrete; Chelsey S Simmons; Matthew Wheeler; Beth Pruitt; Richard Lewis; Yoshinori Yamaguchi; Euan A Ashley; Donald M Bers; Robert C Robbins; Michael T Longaker; Joseph C Wu
Journal:  Cell Stem Cell       Date:  2013-01-03       Impact factor: 24.633

Review 4.  Cardiac Disorders and Pathophysiology of Sarcomeric Proteins.

Authors:  Jolanda van der Velden; Ger J M Stienen
Journal:  Physiol Rev       Date:  2019-01-01       Impact factor: 37.312

5.  Modelling diastolic dysfunction in induced pluripotent stem cell-derived cardiomyocytes from hypertrophic cardiomyopathy patients.

Authors:  Haodi Wu; Huaxiao Yang; June-Wha Rhee; Joe Z Zhang; Chi Keung Lam; Karim Sallam; Alex C Y Chang; Ning Ma; Jaecheol Lee; Hao Zhang; Helen M Blau; Donald M Bers; Joseph C Wu
Journal:  Eur Heart J       Date:  2019-12-01       Impact factor: 35.855

  5 in total

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