Literature DB >> 33743362

Generation of three induced pluripotent stem cell lines, SCVIi003-A, SCVIi004-A, SCVIi005-A, from patients with ARVD/C caused by heterozygous mutations in the PKP2 gene.

James W S Jahng1, Katelyn E Black1, Lichao Liu1, Hye Ryeong Bae1, Marco Perez2, Euan A Ashley3, Karim Sallam2, Joseph C Wu4.   

Abstract

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited heart disease which can cause life-threatening ventricular arrhythmias and cardiac dysfunction. The autosomal dominant form of ARVD/C is caused by mutations in the cardiac desmosome, such as those in the plakoglobin plakophilin-2 (PKP2) gene. Here, we generated three human induced pluripotent stem cell (iPSC) lines from the peripheral blood mononuclear cells (PBMCs) of three ARVD/C patients carrying pathogenic variants in their PKP2 genes (c.2065_2070delinsG; c.235C>T; c.1725_1728dup). All lines show the typical morphology of pluripotent stem cells, demonstrate high expression of pluripotent markers, display normal karyotype, and differentiate into all three germ layers in vitro. These lines are valuable resources for studying the pathological mechanisms of ARVD/C caused by PKP2 mutation.
Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.

Entities:  

Year:  2021        PMID: 33743362     DOI: 10.1016/j.scr.2021.102284

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


  3 in total

1.  Generation of three induced pluripotent stem cell lines (SCVIi014-A, SCVIi015-A, and SCVIi016-A) from patients with LQT1 caused by heterozygous mutations in the KCNQ1 gene.

Authors:  Hao Zhang; James W S Jahng; Yu Liu; Amanda J Chase; Marco V Perez; Joseph C Wu
Journal:  Stem Cell Res       Date:  2021-08-05       Impact factor: 1.587

Review 2.  Translational potential of hiPSCs in predictive modeling of heart development and disease.

Authors:  Corrin Mansfield; Ming-Tao Zhao; Madhumita Basu
Journal:  Birth Defects Res       Date:  2022-03-09       Impact factor: 2.661

Review 3.  Uncovering Inherited Cardiomyopathy With Human Induced Pluripotent Stem Cells.

Authors:  Xue Jiang; Yihuan Chen; Xiaofeng Liu; Lingqun Ye; Miao Yu; Zhenya Shen; Wei Lei; Shijun Hu
Journal:  Front Cell Dev Biol       Date:  2021-05-17
  3 in total

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