Generation of a human induced pluripotent stem cell lines (UKJi003-A) from a patient with Fabry disease and healthy donor (UKJi004-A)
Fabry disease (FD, OMIM #301500) is a rare metabolic disorder, X-linked glycosphingolipidosis that is characterized by pathogenic mutations in the GLA (Galactosidase Alpha) gene (OMIM *300644) that result in reduced α-galactosidase A (α-GAL) activity and accumulation of globotriaosylceramide (Gb3) i...
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| Format: | Article |
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Elsevier
2025-02-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506124003180 |
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| author | Mohamed M. Bekhite Sascha Hübner Tom Kretzschmar Claudia Backsch Anja Weise Elisabeth Klein Jürgen Bogoviku Julian Westphal P. Christian Schulze |
| author_facet | Mohamed M. Bekhite Sascha Hübner Tom Kretzschmar Claudia Backsch Anja Weise Elisabeth Klein Jürgen Bogoviku Julian Westphal P. Christian Schulze |
| author_sort | Mohamed M. Bekhite |
| collection | DOAJ |
| description | Fabry disease (FD, OMIM #301500) is a rare metabolic disorder, X-linked glycosphingolipidosis that is characterized by pathogenic mutations in the GLA (Galactosidase Alpha) gene (OMIM *300644) that result in reduced α-galactosidase A (α-GAL) activity and accumulation of globotriaosylceramide (Gb3) in tissues and organs. Peripheral blood mononuclear cells (PBMCs) were used to generate human induced pluripotent stem cells (hiPSC). UKJi004-A was produced from a healthy donor, whereas UKJi003-A was produced from a patient who had FD with GLA-mutation (IVS6-10G>A). To generate UKJi003-A and UKJi004-A, non-integrating Sendai virus (SeV) vectors expressing four reprogramming factors, OCT4, SOX2, KLF4, and cMYC, were introduced into PBMCs. The pluripotency of the hiPSC lines was confirmed after reprogramming. |
| format | Article |
| id | doaj-art-1369e40446e54546b57578789c7f56a7 |
| institution | Kabale University |
| issn | 1873-5061 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj-art-1369e40446e54546b57578789c7f56a72025-01-13T04:18:37ZengElsevierStem Cell Research1873-50612025-02-0182103620Generation of a human induced pluripotent stem cell lines (UKJi003-A) from a patient with Fabry disease and healthy donor (UKJi004-A)Mohamed M. Bekhite0Sascha Hübner1Tom Kretzschmar2Claudia Backsch3Anja Weise4Elisabeth Klein5Jürgen Bogoviku6Julian Westphal7P. Christian Schulze8Department of Internal Medicine I, Division of Cardiology, University Hospital Jena, FSU Jena, Germany; Corresponding author at: University Hospital Jena, Department of Internal Medicine I, Division of Cardiology, Am Klinikum 1, 07747 Jena, Germany.Department of Internal Medicine I, Division of Cardiology, University Hospital Jena, FSU Jena, GermanyDepartment of Internal Medicine I, Division of Cardiology, University Hospital Jena, FSU Jena, GermanyDepartment of Gynecology and Reproductive Medicine, Jena University Hospital, Friedrich-Schiller-University Jena, GermanyJena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, GermanyJena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, GermanyDepartment of Internal Medicine I, Division of Cardiology, University Hospital Jena, FSU Jena, GermanyDepartment of Internal Medicine I, Division of Cardiology, University Hospital Jena, FSU Jena, GermanyDepartment of Internal Medicine I, Division of Cardiology, University Hospital Jena, FSU Jena, GermanyFabry disease (FD, OMIM #301500) is a rare metabolic disorder, X-linked glycosphingolipidosis that is characterized by pathogenic mutations in the GLA (Galactosidase Alpha) gene (OMIM *300644) that result in reduced α-galactosidase A (α-GAL) activity and accumulation of globotriaosylceramide (Gb3) in tissues and organs. Peripheral blood mononuclear cells (PBMCs) were used to generate human induced pluripotent stem cells (hiPSC). UKJi004-A was produced from a healthy donor, whereas UKJi003-A was produced from a patient who had FD with GLA-mutation (IVS6-10G>A). To generate UKJi003-A and UKJi004-A, non-integrating Sendai virus (SeV) vectors expressing four reprogramming factors, OCT4, SOX2, KLF4, and cMYC, were introduced into PBMCs. The pluripotency of the hiPSC lines was confirmed after reprogramming.http://www.sciencedirect.com/science/article/pii/S1873506124003180 |
| spellingShingle | Mohamed M. Bekhite Sascha Hübner Tom Kretzschmar Claudia Backsch Anja Weise Elisabeth Klein Jürgen Bogoviku Julian Westphal P. Christian Schulze Generation of a human induced pluripotent stem cell lines (UKJi003-A) from a patient with Fabry disease and healthy donor (UKJi004-A) Stem Cell Research |
| title | Generation of a human induced pluripotent stem cell lines (UKJi003-A) from a patient with Fabry disease and healthy donor (UKJi004-A) |
| title_full | Generation of a human induced pluripotent stem cell lines (UKJi003-A) from a patient with Fabry disease and healthy donor (UKJi004-A) |
| title_fullStr | Generation of a human induced pluripotent stem cell lines (UKJi003-A) from a patient with Fabry disease and healthy donor (UKJi004-A) |
| title_full_unstemmed | Generation of a human induced pluripotent stem cell lines (UKJi003-A) from a patient with Fabry disease and healthy donor (UKJi004-A) |
| title_short | Generation of a human induced pluripotent stem cell lines (UKJi003-A) from a patient with Fabry disease and healthy donor (UKJi004-A) |
| title_sort | generation of a human induced pluripotent stem cell lines ukji003 a from a patient with fabry disease and healthy donor ukji004 a |
| url | http://www.sciencedirect.com/science/article/pii/S1873506124003180 |
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