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Generation of two induced pluripotent stem cell (iPSC) lines from an ALS patient with simultaneous mutations in KIF5A and MATR3 genes
Stem Cell Research ( IF 0.8 ) Pub Date : 2020-12-24 , DOI: 10.1016/j.scr.2020.102141
David X Medina 1 , Ashley Boehringer 1 , Marissa Dominick 1 , Ileana Lorenzini 1 , Sara Saez-Atienzar 2 , Erik P Pioro 3 , Rita Sattler 1 , Bryan Traynor 4 , Robert Bowser 1
Affiliation  

Fibroblasts from an amyotrophic lateral sclerosis patient with simultaneous mutations in the MATR3 gene and KIF5A gene were isolated and reprogrammed into induced pluripotent stem cells via a non-integrating Sendai viral vector. The generated iPSC clones demonstrated normal karyotype, expression of pluripotency markers, and the capacity to differentiate into three germ layers. The unique presence of two simultaneous mutations in ALS-associated genes represent a novel tool for the study of ALS disease mechanisms.



中文翻译:


从 KIF5A 和 MATR3 基因同时突变的 ALS 患者中生成两个诱导多能干细胞 (iPSC) 系



来自 MATR3 基因和 KIF5A 基因同时突变的肌萎缩侧索硬化症患者的成纤维细胞被分离出来,并通过非整合仙台病毒载体重编程为诱导多能干细胞。生成的 iPSC 克隆表现出正常的核型、多能性标记的表达以及分化成三个胚层的能力。 ALS 相关基因中两个同时突变的独特存在代表了研究 ALS 疾病机制的新工具。

更新日期:2021-01-01
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