• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

从一名 MYH7 基因 p.Arg723Gly 突变导致的肥厚型心肌病患者中生成了两个 iPSC 克隆（MHHi021-A 和 MHHi021-B）。

Generation of two iPSC clones (MHHi021-A and MHHi021-B) from a patient with hypertrophic cardiomyopathy with p.Arg723Gly mutation in the MYH7 gene.

机构信息

Leibniz Research Laboratories for Biotechnology and Artificial Organs (LEBAO), Department of Cardiothoracic, Transplantation and Vascular Surgery (HTTG), REBIRTH-Research Center for Translational and Regenerative Medicine, Hannover Medical School, 30625 Hannover, Germany.

Leibniz Research Laboratories for Biotechnology and Artificial Organs (LEBAO), Department of Cardiothoracic, Transplantation and Vascular Surgery (HTTG), REBIRTH-Research Center for Translational and Regenerative Medicine, Hannover Medical School, 30625 Hannover, Germany.

出版信息

Stem Cell Res. 2021 Apr;52:102208. doi: 10.1016/j.scr.2021.102208. Epub 2021 Feb 3.

DOI:10.1016/j.scr.2021.102208
PMID:33578365
Abstract

Hypertrophic cardiomyopathy (HCM) is the most common form of genetic heart disease and is characterized by abnormal thickening of the left ventricular wall and interventricular septum. Here we describe the generation of two induced pluripotent stem cell (iPSC) clones from a HCM patient, heterozygous for the p.Arg723Gly (c.2169C > G) mutation in the MYH7 gene. The generated iPSC clones may provide a useful resource for disease modelling to study the mechanisms underlying HCM pathogenesis in iPSC derived progenies, in particular cardiomyocytes.

摘要

肥厚型心肌病（HCM）是最常见的遗传性心脏病，其特征是左心室壁和室间隔异常增厚。在这里，我们描述了从一名 HCM 患者中生成的两个诱导多能干细胞（iPSC）克隆，该患者在 MYH7 基因中杂合了 p.Arg723Gly（c.2169C > G）突变。生成的 iPSC 克隆可能为疾病建模提供有用的资源，以研究源自 iPSC 的后代，特别是心肌细胞中 HCM 发病机制的机制。

相似文献

1
Generation of two iPSC clones (MHHi021-A and MHHi021-B) from a patient with hypertrophic cardiomyopathy with p.Arg723Gly mutation in the MYH7 gene.从一名 MYH7 基因 p.Arg723Gly 突变导致的肥厚型心肌病患者中生成了两个 iPSC 克隆（MHHi021-A 和 MHHi021-B）。
Stem Cell Res. 2021 Apr;52:102208. doi: 10.1016/j.scr.2021.102208. Epub 2021 Feb 3.
2
Generation of iPSC line from MYH7 R403L mutation carrier with severe hypertrophic cardiomyopathy and isogenic CRISPR/Cas9 corrected control.从携带 MYH7 R403L 突变的严重肥厚型心肌病患者和同源 CRISPR/Cas9 校正对照中生成 iPSC 系。
Stem Cell Res. 2021 Apr;52:102245. doi: 10.1016/j.scr.2021.102245. Epub 2021 Feb 11.
3
Enhanced myofilament calcium sensitivity aggravates abnormal calcium handling and diastolic dysfunction in patient-specific induced pluripotent stem cell-derived cardiomyocytes with MYH7 mutation.MYH7 基因突变诱导多能干细胞衍生的心肌细胞中增强的肌球蛋白细丝钙敏感性加重异常钙处理和舒张功能障碍。
Cell Calcium. 2024 Jan;117:102822. doi: 10.1016/j.ceca.2023.102822. Epub 2023 Nov 8.
4
Modelling diastolic dysfunction in induced pluripotent stem cell-derived cardiomyocytes from hypertrophic cardiomyopathy patients.诱导多能干细胞衍生的肥厚型心肌病患者心肌细胞舒张功能障碍建模。
Eur Heart J. 2019 Dec 1;40(45):3685-3695. doi: 10.1093/eurheartj/ehz326.
5
Generation of three induced pluripotent stem cell lines from hypertrophic cardiomyopathy patients carrying MYH7 mutations.从携带 MYH7 突变的肥厚型心肌病患者中生成三个诱导多能干细胞系。
Stem Cell Res. 2021 Aug;55:102455. doi: 10.1016/j.scr.2021.102455. Epub 2021 Jul 12.
6
Generation of a hiPSC line ZZUNEUi007-A from a patient with hypertrophic cardiomyopathy caused by mutation in MYH7.从一位由 MYH7 基因突变引起的肥厚型心肌病患者中生成的 hiPSC 系 ZZUNEUi007-A。
Stem Cell Res. 2020 Mar;43:101699. doi: 10.1016/j.scr.2020.101699. Epub 2020 Jan 7.
7
Generation of two clonal iPSC lines, ICGi019-A and ICGi019-B, by reprogramming peripheral blood mononuclear cells of a patient suffering from hypertrophic cardiomyopathy and carrying a heterozygous p.M659I mutation in MYH7.通过重编程一名患有肥厚型心肌病且在MYH7基因中携带杂合p.M659I突变的患者的外周血单个核细胞，生成了两个克隆诱导多能干细胞系，即ICGi019-A和ICGi019-B。
Stem Cell Res. 2020 Jul;46:101840. doi: 10.1016/j.scr.2020.101840. Epub 2020 May 11.
8
A heterozygous MYH7 (c. 2156G > A) mutant human induced pluripotent stem cell line (ZZUNEUi020-A) generated from a patient with hypertrophic cardiomyopathy.从一名肥厚型心肌病患者中产生的杂合型MYH7（c. 2156G>A）突变人类诱导多能干细胞系（ZZUNEUi020-A）。
Stem Cell Res. 2021 Mar;51:102158. doi: 10.1016/j.scr.2021.102158. Epub 2021 Jan 8.
9
Generation of an iPSC line (ZZUNEUi016-A) derived from a hypertrophic cardiomyopathy patient with the heterozygote mutation in MYH7 gene.从一位携带 MYH7 基因突变的肥厚型心肌病患者中生成诱导多能干细胞系（ZZUNEUi016-A）。
Stem Cell Res. 2021 May;53:102262. doi: 10.1016/j.scr.2021.102262. Epub 2021 Feb 18.
10
Studying Pathogenetic Contribution of a Variant of Unknown Significance, p.M659I (c.1977G > A) in MYH7, to the Development of Hypertrophic Cardiomyopathy Using CRISPR/Cas9-Engineered Isogenic Induced Pluripotent Stem Cells.使用 CRISPR/Cas9 基因编辑的同源诱导多能干细胞研究 MYH7 基因中 p.M659I（c.1977G > A）意义不明变异对肥厚型心肌病发病机制的影响。
Int J Mol Sci. 2024 Aug 9;25(16):8695. doi: 10.3390/ijms25168695.

引用本文的文献

1
Circular RNA circZFPM2 regulates cardiomyocyte hypertrophy and survival.环状 RNA circZFPM2 调控心肌细胞肥大和存活。
Basic Res Cardiol. 2024 Aug;119(4):613-632. doi: 10.1007/s00395-024-01048-y. Epub 2024 Apr 19.
2
MYH7 in cardiomyopathy and skeletal muscle myopathy.MYH7 在心肌病和骨骼肌肌病中的作用。
Mol Cell Biochem. 2024 Feb;479(2):393-417. doi: 10.1007/s11010-023-04735-x. Epub 2023 Apr 20.