Scholarlink

Abstract <p>Hypertrophic cardiomyopathy (HCM) is one of the most common cardiovascular diseases and occurs with frequency 1 : 500. Up to 60% of the cases are hereditary and pathogenic variants of <i>MYH7</i> and <i>MYBPC3</i> sarcomeric genes induced HCM in the most cases. The molecular mechanisms of the disease development are not fully understood. An iPSC line was generated from a patient with HCM, caused by a pathogenic variant c.966G&gt;A (p.W322*) of the <i>MYBPC3</i> gene, which encodes truncated sarcomere proteins. The reprogramming was achieved using non-integrating episomal vectors expressing OCT4, KLF4, L-MYC, SOX2, LIN28 and mp53DD. The resulting iPSC line (ICGi047-A) showed pluripotent status, normal karyotype and spontaneous differentiation into three germ layers. An in vitro cell model of hypertrophic cardiomyopathy, based on cardiomyocytes derived from the iPSC line ICGi047-A, will facilitate understanding of the mechanisms underlying the development of the disease.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Generation of an Induced Pluripotent Stem Cell Line ICGi047-A by Reprogramming Peripheral Blood Mononuclear Cells of a Hypertrophic Cardiomyopathy Patient with the Pathogenic Variant c.966G>A in MYBPC3 Gene

  • 期刊论文

  • 发表日期：

    2025年6月1日

查看全文
  • A. E. Shulgina,
  • E. V. Dementyeva,
  • S. V. Pavlova,
  • J. M. Minina,
  • I. S. Kiselev,
  • O. S. Chumakova,
  • S. M. Zakian

摘要

Abstract

Hypertrophic cardiomyopathy (HCM) is one of the most common cardiovascular diseases and occurs with frequency 1 : 500. Up to 60% of the cases are hereditary and pathogenic variants of MYH7 and MYBPC3 sarcomeric genes induced HCM in the most cases. The molecular mechanisms of the disease development are not fully understood. An iPSC line was generated from a patient with HCM, caused by a pathogenic variant c.966G>A (p.W322*) of the MYBPC3 gene, which encodes truncated sarcomere proteins. The reprogramming was achieved using non-integrating episomal vectors expressing OCT4, KLF4, L-MYC, SOX2, LIN28 and mp53DD. The resulting iPSC line (ICGi047-A) showed pluripotent status, normal karyotype and spontaneous differentiation into three germ layers. An in vitro cell model of hypertrophic cardiomyopathy, based on cardiomyocytes derived from the iPSC line ICGi047-A, will facilitate understanding of the mechanisms underlying the development of the disease.