Li Zihan, Luan Jing, Yang Yali, Li Guowei, Hu Zhouhui, Yu Che, Cui Yazhou, Han Jinxiang
Department of Orthopedic Surgery, The First Affiliated Hospital of Shandong First Medical University, Ji'nan 250014 Shandong, China; Biomedical Sciences College, Shandong Medicinal Biotechnology Centre, Shandong First Medical University& Shandong Academy of Medical Sciences, Ji'nan 250062 Shandong, China; Key Lab for Biotech-Drugs of National Health Commission, Ji'nan 250062 Shandong, China; Key Lab for Rare & Uncommon Diseases of Shandong Province, Ji'nan 250062 Shandong, China.
Department of Nephrology, Provincial Hospital Affiliated to Shandong First Medical University, Jinan, Shandong, China; Postdoctoral Mobile Station of Shandong University, Jinan, Shandong, China; Medical Integration and Practice Center, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, China.
Stem Cell Res. 2025 Mar;83:103666. doi: 10.1016/j.scr.2025.103666. Epub 2025 Jan 23.
Fabry disease (FD) is a systemic disease in which globotriaosylceramide and other naturally occurring glycosphingolipid accumulate in various tissues throughout the body due to mutation of α-galactosidase A (GLA). These induced pluripotent stem cells (iPSCs) were generated from a 10-year-old male patient's urine carrying the GLA c.1080_1082del Fabry disease mutation. The iPSCs were validated by confirming the pluripotent markers expression, trilineage differentiation capability, normal karyotype and targeted mutation. This resource enables further assessment of the pathophysiological development of Fabry disease and serves as a model to develop drugs for treating Fabry disease.
法布里病（FD）是一种全身性疾病，由于α-半乳糖苷酶A（GLA）突变，导致球三糖神经酰胺和其他天然存在的糖鞘脂在全身各组织中蓄积。这些诱导多能干细胞（iPSC）由一名携带GLA c.1080_1082del法布里病突变的10岁男性患者的尿液生成。通过确认多能性标志物表达、三系分化能力、正常核型和靶向突变对iPSC进行了验证。该资源有助于进一步评估法布里病的病理生理发展，并作为开发治疗法布里病药物的模型。
