Abstract：
Myofibrillar myopathy (MFM) is a rare genetic disorder characterized by muscular dystrophy that is often associated with cardiac disease. This disease is caused by mutations in several genes, among them DES (encoding desmin) is the most frequently affected. Peripheral blood mononuclear cells from 5 different MFM patients with different DES mutations were reprogrammed into induced pluripotent stem cells (IPSC) using non-integrative vectors. For each patient, one IPSC clone was selected and demonstrated pluripotency hallmarks without genomic abnormalities. SNP profiles were identical to the cells of origin and all the clones have the capacity to differentiate into all three germ layers.
摘要：
肌原纤维肌病（MFM）是一种罕见的遗传性疾病，其特征是肌营养不良，通常与心脏病有关。这种疾病是由几个基因的突变引起的，其中DES（编码desmin）是最常见的影响。使用非整合载体将来自具有不同DES突变的5个不同MFM患者的外周血单核细胞重编程为诱导多能干细胞(IPSC)。对于每个病人来说,选择一个IPSC克隆,并证明了多能性标志,没有基因组异常.SNP谱与起源细胞相同,并且所有克隆都具有分化成所有三个胚层的能力。
