利用 CRISPR/Cas9 技术生成携带synemin 基因纯合缺失的诱导多能干细胞系（TMOi001-A-11）。
Generation of induced pluripotent stem cell line (TMOi001-A-11) carrying a homozygous deletion in the synemin gene using CRISPR/Cas9.
机构信息
Sorbonne Université, Institut de Biologie Paris-Seine (IBPS), CNRS UMR 8256, Inserm ERL U1164, Biological Adaptation and Ageing, 75005 Paris, France.
Sorbonne Université, Institut de Biologie Paris-Seine (IBPS), CNRS UMR 8256, Inserm ERL U1164, Biological Adaptation and Ageing, 75005 Paris, France.
出版信息
Stem Cell Res. 2023 Dec;73:103254. doi: 10.1016/j.scr.2023.103254. Epub 2023 Nov 22.
A number of genetic variants in the SYNM gene encoding for the intermediate filament synemin have been reported in patients with cardiomyopathies, skeletal myopathies, cancer and certain neurodegenerative disorders. To better understand its role, we generated a human induced pluripotent stem cell line with a homozygous deletion in the SYNM gene by CRISPR/Cas9 genome editing. The synemin-knockout human induced pluripotent stem cells exhibit typical morphology of pluripotent cells, expression of pluripotency markers, normal karyotype and differentiation capacity in the three germ layers. This line will allow us to investigate the role of synemin in cardiomyopathy upon differentiation into beating cardiomyocytes.
已有研究报道，编码中间丝蛋白synemin 的 SYNM 基因中的多个遗传变异与心肌病、骨骼肌病、癌症和某些神经退行性疾病有关。为了更好地了解其作用，我们通过 CRISPR/Cas9 基因组编辑技术在人类诱导多能干细胞系中产生了 SYNM 基因的纯合缺失。synemin 敲除的人类诱导多能干细胞表现出典型的多能细胞形态、多能性标志物表达、正常核型和三个胚层的分化能力。该细胞系将使我们能够在分化为搏动心肌细胞后研究 synemin 在心肌病中的作用。
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