Nemaline myopathy-2 (NEM2) is an autosomal recessive skeletal muscle disorder caused by mutations in the nebulin (NEB) gene. We report the generation and characterization of a human induced pluripotent stem cell (iPSC) line SDQLCHi017-A, derived from a 1-month-old patient with NEM2 carrying compound heterozygote mutations (c.6915+1G>T, c.14910+3G>C) in NEB gene. The peripheral blood mononuclear cells (PBMCs) were reprogrammed with non-integrating episomal vectors coding OCT4, SOX2, KLF4, BCL-XL and MYC. The established iPSC line contained the same mutations found in the patient, showed a normal karyotype, could differentiate into cells of three germ layers in vitro and expressed pluripotency markers.

Nemaline myopathy-2（NEM2）是一种因核蛋白（NEB）基因突变引起的常染色体隐性骨骼肌疾病。我们报道了人类诱导的多能干细胞（iPSC）系SDQLCHi017-A的产生和表征，该系来自1个月大的带有复合杂合子突变（c.6915 + 1G> T，c.14910 + 3G的NEM2患者> C）在NEB基因。用编码OCT4，SOX2，KLF4，BCL-XL和MYC的非整合型游离型载体对外周血单核细胞（PBMC）进行重新编程。建立的iPSC系包含与患者相同的突变，显示出正常的核型，可以在体外分化为三个胚层的细胞并表达多能性标记。