Wang Long, Gao Beibei, Mo Xuming, Guo Xiaoling, Huang Jinyu
Department of Cardiology, the Affiliated Hangzhou First People's Hospital of Zhejiang University School of Medicine, Hangzhou, Zhejiang, China; Translational Medicine Research Center, Key Laboratory of Clinical Cancer Pharmacology and Toxicology Research of Zhejiang Province, the Affiliated Hangzhou First People's Hospital of Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
Department of Cardiology, the Affiliated Hangzhou First People's Hospital of Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
Stem Cell Res. 2021 Mar;51:102170. doi: 10.1016/j.scr.2021.102170. Epub 2021 Jan 12.
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结合盒转运蛋白D亚家族成员1（ABCD1）的基因突变可导致遗传性神经代谢功能障碍疾病X连锁肾上腺脑白质营养不良（X-ALD）。一名6岁男性X-ALD患者的尿液细胞携带ABCD1基因移码突变（c.2013insA，Xq28），使用含有OCT4、SOX2、c-MYC和KLF4山中因子的仙台病毒重编程试剂盒将其重编程为诱导多能干细胞（iPSC）系WMUi014-A。所建立的诱导多能干细胞在体外稳定表达多能性标志物，具有分化为三个胚层的潜能，并维持正常的44 + XY核型。
