从一位携带 Lamin A/C p.Glu161Lys 突变的扩张型心肌病患者中生成的人诱导多能干细胞系 EURACi015-A。
Generation of human induced pluripotent stem cell line EURACi015-A from a patient affected by dilated cardiomyopathy carrying the Lamin A/C p.Glu161Lys mutation.
机构信息
Institute for Biomedicine, Eurac Research, Affiliated Institute of the University of Lübeck, Bolzano, Italy; Faculty of Science and Technology, Free University of Bolzano, Bolzano, BZ, Italy.
Institute for Biomedicine, Eurac Research, Affiliated Institute of the University of Lübeck, Bolzano, Italy; Cardiovascular Biology Laboratory, ICGEB Trieste, Trieste, Italy; University of Trieste, Department of Medicine, Surgery and Health Sciences, Trieste, Italy.
出版信息
Stem Cell Res. 2023 Sep;71:103172. doi: 10.1016/j.scr.2023.103172. Epub 2023 Jul 28.
Dilated cardiomyopathy (DCM) is a common heart disorder caused by genetic and non-genetic etiologies, characterized by left ventricular dilatation and contractile dysfunction. Here, we created a human induced pluripotent stem cell line from peripheral blood mononuclear cells using non-integrating vectors from a patient carrying a heterozygous LMNA variant (c.481G > A, p.Glu161Lys, NM_170707.4). The obtained EURACi015-A line, showed the typical morphology of pluripotent cells, normal karyotype and exhibited pluripotency markers and a trilineage differentiation potential. This cell line can be successfully differentiated into cardiomyocytes and endothelial cells. This line represents a human in vitro model to study the genetic basis of DCM.
扩张型心肌病（DCM）是一种由遗传和非遗传病因引起的常见心脏疾病，其特征为左心室扩张和收缩功能障碍。在这里，我们使用携带杂合性 LMNA 变体（c.481G>A，p.Glu161Lys，NM_170707.4）的患者的非整合载体，从外周血单核细胞中创建了一个人诱导多能干细胞系。获得的 EURACi015-A 系表现出多能细胞的典型形态、正常核型，并表现出多能性标记物和三系分化潜能。该细胞系可成功分化为心肌细胞和内皮细胞。该系代表了研究 DCM 遗传基础的人类体外模型。
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