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

Zihan Li; Jing Luan; Yali Yang; Guowei Li; Zhouhui Hu; Che Yu; Yazhou Cui; Jinxiang Han

doi:10.1016/j.scr.2025.103666

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

Stem Cell Res. 2025 Jan 23:83:103666. doi: 10.1016/j.scr.2025.103666. Online ahead of print.

Authors

Zihan Li¹, Jing Luan¹, Yali Yang¹, Guowei Li¹, Zhouhui Hu¹, Che Yu², Yazhou Cui³, Jinxiang Han⁴

Affiliations

¹ 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.
² 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. Electronic address: yuchesdu@hotmail.com.
³ 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. Electronic address: cuiyazhou01@sina.com.
⁴ 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. Electronic address: jxhan9888@aliyun.com.

PMID: 39864340
DOI: 10.1016/j.scr.2025.103666

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.