The gene mutations of the ATP-binding-cassette transporter subfamily D member 1 (ABCD1) can lead to the inherited neuro-metabolic malfunction disease X-linked adrenoleukodystrophy (X-ALD). Human urine cells from a 6-year-old male X-ALD patient harboring a ABCD1 gene frameshift (c.2013insA, Xq28) were reprogrammed into the induced pluripotent stem cell (iPSC) line WMUi014-A with Sendai virus reprogramming kit containing OCT4, SOX2, c-MYC, and KLF4 Yamanaka factors. The established iPSCs in vitro stably expressed pluripotent markers, had differentiation potential into three germ layers, and maintained a normal 44 + XY karyotype.

ATP结合盒式转运蛋白亚家族D成员1（ABCD1）的基因突变可导致遗传性神经代谢功能障碍疾病X联肾上腺皮质营养不良（X-ALD）。使用包含OCT4的仙台病毒重编程试剂盒将来自ABCD1基因移码的6岁男性X-ALD患者的人类尿细胞（c.2013insA，Xq28）重编程为诱导多能干细胞（iPSC）系WMUi014-A 。SOX2，c-MYC和KLF4山中因子。建立的iPSCs在体外稳定表达多能标记，具有分化为三个胚层的潜力，并保持正常的44 + XY核型。