Generation of an induced pluripotent stem cell line (SMBCi022-A) from a patient with Fabry disease
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 pa...
Saved in:
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-03-01
|
| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506125000169 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850086435468607488 |
|---|---|
| author | Zihan Li Jing Luan Yali Yang Guowei Li Zhouhui Hu Che Yu Yazhou Cui Jinxiang Han |
| author_facet | Zihan Li Jing Luan Yali Yang Guowei Li Zhouhui Hu Che Yu Yazhou Cui Jinxiang Han |
| author_sort | Zihan Li |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-91ee3b6d9c944f1aaf2a4fd982c268a2 |
| institution | DOAJ |
| issn | 1873-5061 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj-art-91ee3b6d9c944f1aaf2a4fd982c268a22025-08-20T02:43:29ZengElsevierStem Cell Research1873-50612025-03-018310366610.1016/j.scr.2025.103666Generation of an induced pluripotent stem cell line (SMBCi022-A) from a patient with Fabry diseaseZihan Li0Jing Luan1Yali Yang2Guowei Li3Zhouhui Hu4Che Yu5Yazhou Cui6Jinxiang Han7Department 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, ChinaDepartment 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, ChinaDepartment 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, ChinaDepartment 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, ChinaDepartment 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, ChinaDepartment 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; Corresponding authors.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; Corresponding authors.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; Corresponding authors.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.http://www.sciencedirect.com/science/article/pii/S1873506125000169 |
| spellingShingle | Zihan Li Jing Luan Yali Yang Guowei Li Zhouhui Hu Che Yu Yazhou Cui Jinxiang Han Generation of an induced pluripotent stem cell line (SMBCi022-A) from a patient with Fabry disease Stem Cell Research |
| title | Generation of an induced pluripotent stem cell line (SMBCi022-A) from a patient with Fabry disease |
| title_full | Generation of an induced pluripotent stem cell line (SMBCi022-A) from a patient with Fabry disease |
| title_fullStr | Generation of an induced pluripotent stem cell line (SMBCi022-A) from a patient with Fabry disease |
| title_full_unstemmed | Generation of an induced pluripotent stem cell line (SMBCi022-A) from a patient with Fabry disease |
| title_short | Generation of an induced pluripotent stem cell line (SMBCi022-A) from a patient with Fabry disease |
| title_sort | generation of an induced pluripotent stem cell line smbci022 a from a patient with fabry disease |
| url | http://www.sciencedirect.com/science/article/pii/S1873506125000169 |
| work_keys_str_mv | AT zihanli generationofaninducedpluripotentstemcelllinesmbci022afromapatientwithfabrydisease AT jingluan generationofaninducedpluripotentstemcelllinesmbci022afromapatientwithfabrydisease AT yaliyang generationofaninducedpluripotentstemcelllinesmbci022afromapatientwithfabrydisease AT guoweili generationofaninducedpluripotentstemcelllinesmbci022afromapatientwithfabrydisease AT zhouhuihu generationofaninducedpluripotentstemcelllinesmbci022afromapatientwithfabrydisease AT cheyu generationofaninducedpluripotentstemcelllinesmbci022afromapatientwithfabrydisease AT yazhoucui generationofaninducedpluripotentstemcelllinesmbci022afromapatientwithfabrydisease AT jinxianghan generationofaninducedpluripotentstemcelllinesmbci022afromapatientwithfabrydisease |