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从一位患有扩张型心肌病和肌萎缩性侧索硬化症的患者中生成了两个 iPSC 系(FAMRCi006-A 和 FAMRCi006-B),该患者携带 LMNAp.Arg527Pro 基因突变。

Generation of two iPSC lines (FAMRCi006-A and FAMRCi006-B) from patient with dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy associated with genetic variant LMNAp.Arg527Pro.

机构信息

Saint Petersburg State University, Saint-Petersburg, Russia; Almazov National Medical Research Centre, Saint-Petersburg, Russia.

Saint Petersburg State University, Saint-Petersburg, Russia; Almazov National Medical Research Centre, Saint-Petersburg, Russia.

出版信息

Stem Cell Res. 2020 Mar;43:101714. doi: 10.1016/j.scr.2020.101714. Epub 2020 Jan 31.

Abstract

Mutations in LMNA gene are known to cause a broad range of diseases called laminopathies. We have generated two induced pluripotent stem cell lines FAMRCi006-A and FAMRCi006-B from a patient carrying LMNA p. p.Arg527Pro mutation associated with Emery-Dreifuss muscular dystrophy and dilated cardiomyopathy. Patient-specific peripheral blood mononuclear cells were reprogrammed to iPSCs using Sendai virus reprogramming system. Characterization of iPSCs had revealed pluripotency marker expression, normal karyotype, ability to differentiate into three embryonic germ layers. The reported iPSC lines could be a useful tool for in vitro modeling of laminopathies associated with LMNA genetic variants.

摘要

已知 LMNA 基因突变会导致多种疾病,称为层粘连蛋白病。我们从一位携带与 Emery-Dreifuss 肌营养不良症和扩张型心肌病相关的 LMNA p.Arg527Pro 突变的患者中生成了两个诱导多能干细胞系 FAMRCi006-A 和 FAMRCi006-B。使用 Sendai 病毒重编程系统将患者特异性外周血单核细胞重编程为 iPSCs。iPSC 的特征分析显示多能性标志物表达、正常核型、分化为三个胚胎 germ 层的能力。报道的 iPSC 系可作为与 LMNA 基因突变相关的层粘连蛋白病体外建模的有用工具。

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