Generation of two human induced pluripotent stem cell lines derived from two X-linked adrenoleukodystrophy patients with ABCD1 mutations
Generation of two human induced pluripotent stem cell lines derived from two X-linked adrenoleukodystrophy patients with ABCD1 mutations
复制标题
DOI：
10.1016/j.scr.2021.102337
复制
发表时间：
2021-04-23
影响因子：
1.2
通讯作者：
Hayashi, Yohei
中科院分区：
文献类型：
--
作者：
Kuramochi, Yuji;Awaya, Tomonari;Hayashi, Yohei
肾上腺脑白质营养不良（ALD）是一种X连锁遗传性疾病，其特征是中枢神经系统脱髓鞘和肾上腺功能不全。使用逆转录病毒载体从皮肤成纤维细胞产生源自两名患有ALD的日本男性患者的人诱导多能干细胞（hiPSC）系。所产生的hiPSC系显示自我更新和多能性，并且在ABCD 1基因中携带错义或无义突变。由于ABCD 1功能障碍引起的分子发病机制尚不清楚，这些细胞资源为建立疾病模型和开发X-ALD的新疗法提供了有用的工具。
Adrenoleukodystrophy (ALD) is an X-linked genetic disorder, characterized by demyelination in the central nervous system and adrenal insufficiency. Human induced pluripotent stem cell (hiPSC) lines derived from two Japanese male patients with ALD were generated from skin fibroblasts using retroviral vectors. The generated hiPSC lines showed self-renewal and pluripotency, and carried either a missense or a nonsense mutation in ABCD1 gene. Since the molecular pathogenesis caused by ABCD1 dysfunction remains unclear, these cell resources provide useful tools to establish disease models and to develop new therapies for X-ALD.