Life Sciences Research Center, Moscow Institute of Physics and Technology, National Research University, 141700 Dolgoprudniy, Russia.
Life Sciences Research Center, Moscow Institute of Physics and Technology, National Research University, 141700 Dolgoprudniy, Russia.
Stem Cell Res. 2024 Feb;74:103298. doi: 10.1016/j.scr.2023.103298. Epub 2023 Dec 28.
X-linked adrenoleukodystrophy is a metabolic disease associated with mutations in the ABCD1 gene (ATP-binding cassette subfamily D). Numerous pathogenic variants in this gene lead to a wide spectrum of symptoms, including adrenal insufficiency, slowly progressive dying-back axonopathy and demyelination of the central nervous system in specific phenotypes. The induced pluripotent stem cell line was derived from a patient diagnosed with x-ALD. Due to the complexity of developing working therapy based on animal models, it's crucial to obtain the cell model directly from patients. Peripheral blood mononuclear cells (PBMCs) isolated from the donor's whole blood were reprogrammed into induced pluripotent stem cells and then characterized. Expression of pluripotency markers SSEA4, TRA-1-60, SOX2, OCT4 is proven quantitatively and qualitatively, iPSCs demonstrate the ability to differentiate into three germ layers and the absence of Sendai virus expression factors.
X 连锁肾上腺脑白质营养不良是一种与 ABCD1 基因（ATP 结合盒亚家族 D）突变相关的代谢疾病。该基因的许多致病性变异导致广泛的症状，包括肾上腺功能不全、缓慢进行性轴索退变和中枢神经系统脱髓鞘，具体表型不同。诱导多能干细胞系源自被诊断为 X-ALD 的患者。由于基于动物模型开发有效治疗方法的复杂性，直接从患者中获得细胞模型至关重要。从供体全血中分离出的外周血单核细胞（PBMC）被重编程为诱导多能干细胞，然后进行特征鉴定。多能性标志物 SSEA4、TRA-1-60、SOX2、OCT4 的表达在数量和质量上均得到证实，iPSC 显示出向三个胚层分化的能力，并且没有表达仙台病毒的表达因子。
