生成三个杜兴氏肌营养不良症患者特异性诱导多能干细胞系DMD_YoTaz_PhyMedEXp、DMD_RaPer_PhyMedEXp、DMD_OuMen_PhyMedEXp（INSRMi008 - A、INSRMi009 - A和INSRMi010 - A）。
Generation of three Duchenne Muscular Dystrophy patient-specific induced pluripotent stem cell lines DMD_YoTaz_PhyMedEXp, DMD_RaPer_PhyMedEXp, DMD_OuMen_PhyMedEXp (INSRMi008-A, INSRMi009-A and INSRMi010-A).
作者信息
Souidi Monia, Amédro Pascal, Meyer Pierre, Desprat Romain, Lemaître Jean-Marc, Rivier François, Lacampagne Alain, Meli Albano C
机构信息
PhyMedExp, University of Montpellier, INSERM, CNRS, Montpellier, France.
PhyMedExp, University of Montpellier, INSERM, CNRS, Montpellier, France; Pediatric and Congenital Cardiology Department, M3C Regional Reference CHD Centre, Clinical Investigation Centre, Montpellier University Hospital, Montpellier, France.
出版信息
Stem Cell Res. 2020 Dec;49:102094. doi: 10.1016/j.scr.2020.102094. Epub 2020 Nov 19.
Duchenne Muscular Dystrophy (DMD) is a X-linked degenerative pathology with a prevalence of 1/3600-6000 boys due to the absence of functional dystrophin in muscles. This muscular disease leads to skeletal muscle damages, respiratory failure and in the later stages dilated cardiomyopathy (DCM) leading to heart failure. We generated iPSC lines from three different DMD patients carrying respectively deletions of exons 1, 52 and 55 in the dystrophin gene. The reprogrammed iPSC lines showed expression of pluripotent markers, capacity to differentiate in trilineage embryonic layers and a normal karyotype.
杜氏肌营养不良症（DMD）是一种X连锁退行性疾病，由于肌肉中缺乏功能性抗肌萎缩蛋白，其在男孩中的患病率为1/3600 - 6000。这种肌肉疾病会导致骨骼肌损伤、呼吸衰竭，在疾病后期还会引发扩张型心肌病（DCM），进而导致心力衰竭。我们从三名不同的DMD患者中生成了诱导多能干细胞（iPSC）系，这些患者的抗肌萎缩蛋白基因分别缺失了外显子1、52和55。重编程后的iPSC系表现出多能性标志物的表达、在三胚层胚胎层中分化的能力以及正常的核型。
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