Wang Qiu-Hong, Liu Li-Ying, Wang Yang-Yang, He Wen, Wang Jia, Wang Jing, Zou Li-Ping
Medical School of Chinese PLA, Beijing 100853, China; Senior Department of Pediatrics, Chinese PLA General Hospital, Department of Pediatrics, The First Medical Center of Chinese PLA General Hospital, Beijing 100853, China.
Xuanwu Hospital Capital Medical University, Beijing, China.
Stem Cell Res. 2023 Dec;73:103243. doi: 10.1016/j.scr.2023.103243. Epub 2023 Nov 3.
X-linked adrenoleukodystrophy (ALD) is a rare peroxisome disease with phenotypic heterogeneity. There is a lack of suitable in vitro models to study its pathogenesis. We established two strains of iPSCs from skin fibroblasts of patients with childhood cerebral ALD and Addison's disease, respectively. CytoTune™2.0 Sendai reprogramming kit was used. The iPSC lines showed typical stem cell morphology, normal karyotype, and carrying ABCD1 variation. The iPSC lines express pluripotency markers, and have the capacity to differentiate into three germ layers. iPSCs can be used as an alternative cell source for ALD in vitro model to study its pathogenesis and therapeutic strategies.
X连锁肾上腺脑白质营养不良（ALD）是一种罕见的过氧化物酶体疾病，具有表型异质性。缺乏合适的体外模型来研究其发病机制。我们分别从患有儿童脑型ALD和艾迪生病患者的皮肤成纤维细胞中建立了两株诱导多能干细胞（iPSC）。使用了CytoTune™2.0仙台重编程试剂盒。这些iPSC系表现出典型的干细胞形态、正常的核型，并携带ABCD1变异。这些iPSC系表达多能性标志物，并有分化为三个胚层的能力。iPSC可作为ALD体外模型的替代细胞来源，用于研究其发病机制和治疗策略。
