Human iPSC lines were generated from peripheral blood mononuclear cells of patient carrying LMNA mutation associated with Emery–Dreifuss muscular dystrophy accompanied by atrioventricular block and paroxysmal atrial fibrillation. Reprogramming factors OCT4, KLF4, SOX2, CMYC were delivered using Sendai virus transduction. iPSCs were characterized in order to prove the pluripotency markers expression, normal karyotype, ability to differentiate into three embryonic germ layers. Generated iPSC lines would be useful model to investigate disease development associated with genetic variants in LMNA gene.

中文翻译：

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从携带遗传变异 LMNA p.Arg249Gln 的 Emery-Dreifuss 肌营养不良症和心律异常患者中生成两个 iPSC 系（FAMRCi007-A 和 FAMRCi007-B）。

人 iPSC 系是从携带LMNA突变的患者的外周血单核细胞中产生的，该突变与 Emery-Dreifuss 肌营养不良症伴发房室传导阻滞和阵发性心房颤动相关。使用仙台病毒转导传递重编程因子OCT4 、 KLF4 、 SOX2 、 CMYC 。对 iPSC 进行表征，以证明多能性标记表达、正常核型、分化为三个胚胎胚层的能力。生成的 iPSC 系将成为研究与LMNA基因遗传变异相关的疾病发展的有用模型。