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Abstract <p>Induced pluripotent stem cell lines (iPSC) FAMRCi013-A, FAMRCi013-B, and FAMRCi013-C were generated by reprogramming peripheral blood mononuclear cells from a patient with the genetic variant <i>PKP2</i>:c.355delT. The iPSC lines were characterized according to the general standards and showed the pluripotent cells’ properties: they had characteristic morphology, normal karyotype (46,XY), expressed markers typical for pluripotent cells (OCT4, NANOG, SOX2, SSEA4), and had the ability to produce derivatives of three germ layers during directed differentiation. These lines can be used to study the likely pathogenic variant <i>PKP2</i>:c.355delT associated with arrhythmogenic right ventricular cardiomyopathy.</p>

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Generation of Induced Pluripotent Stem Cell Lines FAMRCi013-A, FAMRCi013-B, and FAMRCi013-C from a Patient with Arrhythmogenic Right Ventricular Cardiomyopathy Carrying Genetic Variant PKP2:c.355delT

  • 期刊论文

  • 发表日期：

    2025年8月1日

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  • E. G. Nikitina,
  • V. V. Garnyuk,
  • Yu. V. Fomicheva,
  • O. A. Kofeynikova,
  • L. A. Mkrtchian,
  • A. M. Zlotina,
  • Ya. A. Zabrodskaya,
  • A. A. Kostareva

摘要

Abstract

Induced pluripotent stem cell lines (iPSC) FAMRCi013-A, FAMRCi013-B, and FAMRCi013-C were generated by reprogramming peripheral blood mononuclear cells from a patient with the genetic variant PKP2:c.355delT. The iPSC lines were characterized according to the general standards and showed the pluripotent cells’ properties: they had characteristic morphology, normal karyotype (46,XY), expressed markers typical for pluripotent cells (OCT4, NANOG, SOX2, SSEA4), and had the ability to produce derivatives of three germ layers during directed differentiation. These lines can be used to study the likely pathogenic variant PKP2:c.355delT associated with arrhythmogenic right ventricular cardiomyopathy.