Generation of an induced pluripotent stem cell line (SMBCi022-A) from a patient with Fabry disease.

• Tác giả: Yazhou Cui, Jinxiang Han, Zhouhui Hu, Guowei Li, Zihan Li, Jing Luan, Yali Yang, Che Yu
• Ngôn ngữ: eng
• Ký hiệu phân loại: 332.63242 Investment
• Thông tin xuất bản: England : Stem cell research , 2025
• Bộ sưu tập: NCBI
• ID: 218605

Tóm tắt

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.