Generation of an urine-derived induced pluripotent stem cell line from a 6-year old X-linked adrenoleukodystrophy (X-ALD) patient
Generation of an urine-derived induced pluripotent stem cell line from a 6-year old X-linked adrenoleukodystrophy (X-ALD) patient
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从 6 岁 X 连锁肾上腺脑白质营养不良 (X-ALD) 患者中产生尿源性诱导多能干细胞系
DOI：
10.1016/j.scr.2021.102170
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发表时间：
2021
影响因子：
1.2
通讯作者：
Jinyu Huang
中科院分区：
文献类型：
--
作者：
Long Wang;Beibei Gao;Xuming Mo;Xiaoling Guo;Jinyu Huang
ATP结合盒转运子亚家族D成员1（ABCD 1）基因突变可导致遗传性神经代谢障碍性疾病X连锁肾上腺脑白质营养不良（X-ALD）。用含有OCT 4、SOX 2、c-MYC和KLF 4 Yamanaka因子的仙台病毒重编程试剂盒将来自携带ABCD 1基因移码（c.2013insA，Xq 28）的6岁男性X-ALD患者的人尿细胞重编程为诱导多能干细胞（iPSC）系WMUi 014-A。所建立的iPSCsin体外稳定表达多能标记物，具有分化成三个胚层的潜能，并保持正常的44 + XY核型。
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 containingOCT4,SOX2,c-MYC, andKLF4Yamanaka factors. The established iPSCsin vitrostably expressed pluripotent markers, had differentiation potential into three germ layers, and maintained a normal 44 + XY karyotype.