Duchenne muscular dystrophy (DMD) is the most common paediatric muscular dystrophy and is caused by mutations in the DYSTROPHIN gene. We generated two induced pluripotent stem cell (iPSC) lines from DMD patients with nonsense mutations in exons 68 (UCLi011-A) or 70 (UCLi012-A) by transfecting reprogramming mRNAs. Both mutations affect expression of all dystrophin isoforms. iPSCs expressed pluripotency-associated markers, differentiated into cells of the three germ layers in vitro and had normal karyotypes. The selected mutations are potentially amenable to read-through therapies, exon-skipping and gene-editing. These new iPSCs are also relevant to study DYSTROPHIN role in tissues other than skeletal muscle.

Duchenne肌营养不良症（DMD）是最常见的小儿肌营养不良症，由DYSTROPHIN基因突变引起。通过转染重编程的mRNA，我们从外显子68（UCLi011-A）或70（UCLi012-A）中无意义突变的DMD患者中产生了两种诱导性多能干细胞（iPSC）系。两种突变均影响所有肌营养不良蛋白同工型的表达。iPSC表达多能性相关标记，在体外分化为三个胚层的细胞，并具有正常的核型。所选的突变可能适用于通读疗法，跳过外显子和基因编辑。这些新的iPSC还与研究DYSTROPHIN在骨骼肌以外的组织中的作用有关。