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Updated: Jun 13, 2025

Generation of Induced Pluripotent Stem Cells by Reprogramming Human Fibroblasts with the Stemgent Human TF Lentivirus Set
Published on: December 8, 2009
Generation of an induced pluripotent stem cell line (SMBCi022-A) from a patient with Fabry disease
Zihan Li1, Jing Luan1, Yali Yang1
1Department 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.
Abstract:
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.
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