Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia; E.N. Meshalkin National Medical Research Center of the Ministry of Health of the Russian Federation, Novosibirsk, Russia.
Novosibirsk State University, Novosibirsk, Russia.
Stem Cell Res. 2021 May;53:102348. doi: 10.1016/j.scr.2021.102348. Epub 2021 Apr 19.
Hypertrophic cardiomyopathy (HCM) is a frequent cardiovascular pathology caused by a huge number of mutations in sarcomere-associated proteins. This genetic diversity leads to differences in pathogenetic mechanisms and hampers HCM therapy. Cardiomyocytes derived from patient-specific induced pluripotent stem cells give new opportunities for studying underlying HCM mechanisms. We generated an iPSC line from peripheral blood mononuclear cells of an HCM patient with a heterozygous p.E510Q mutation in HADHA using non-integrating episomal vectors. The iPSC line showed typical morphology, expression of pluripotency markers, capacity to be differentiated into derivatives of three germ layers, and presence of the patient-specific mutation.
肥厚型心肌病（HCM）是一种由肌节相关蛋白的大量突变引起的常见心血管病理。这种遗传多样性导致了发病机制的差异，阻碍了 HCM 的治疗。源自患者特异性诱导多能干细胞的心肌细胞为研究潜在的 HCM 机制提供了新的机会。我们使用非整合的附加体载体，从一位 HCM 患者的外周血单核细胞中产生了一个携带 HADHA 上 p.E510Q 杂合突变的 iPSC 系。该 iPSC 系表现出典型的形态、多能性标记物的表达、向三个胚层衍生物分化的能力以及存在患者特异性突变。
