从一名肥厚型心肌病患者中生成诱导多能干细胞（iPSC），该患者的β-肌球蛋白重链（MYH7）基因存在致病性变异p.Val698Ala。
Generation of induced pluripotent stem cells (iPSCs) from a hypertrophic cardiomyopathy patient with the pathogenic variant p.Val698Ala in beta-myosin heavy chain (MYH7) gene.
作者信息
Ross Samantha Barratt, Fraser Stuart T, Nowak Natalie, Semsarian Christopher
机构信息
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Newtown, Australia; Sydney Medical School, University of Sydney, Sydney, Australia.
Disciplines of Physiology, Anatomy & Histology, School of Medical Sciences, University of Sydney, Sydney, Australia.
出版信息
Stem Cell Res. 2017 Apr;20:88-90. doi: 10.1016/j.scr.2017.02.015. Epub 2017 Mar 7.
Induced pluripotent stem cells (iPSCs) were generated from peripheral blood mononuclear cells (PBMCs) isolated from the whole blood of a 43-year-old male with hypertrophic cardiomyopathy (HCM) who carries the pathogenic variant p.Val698Ala in beta-myosin heavy chain (MYH7). Patient-derived PBMCs were reprogrammed using non-integrative episomal vectors containing reprogramming factors OCT4, SOX2, LIN28, KLF4 and L-MYC. iPSCs were shown to express pluripotent markers, have trilineage differentiation potential, carry the pathogenic MYH7 variant p.Val698Ala, have a normal karyotype and no longer carry the episomal reprogramming vector. This line is useful for studying the link between variants in MYH7 and the pathogenesis of HCM.
诱导多能干细胞（iPSC）由一名43岁肥厚型心肌病（HCM）男性全血中分离出的外周血单个核细胞（PBMC）产生，该男性在β-肌球蛋白重链（MYH7）中携带致病性变异p.Val698Ala。使用含有重编程因子OCT4、SOX2、LIN28、KLF4和L-MYC的非整合型附加体质粒载体对患者来源的PBMC进行重编程。iPSC显示出表达多能性标志物，具有三系分化潜能，携带致病性MYH7变异p.Val698Ala，具有正常核型且不再携带附加体重编程载体。该细胞系对于研究MYH7变异与HCM发病机制之间的联系很有用。
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