Generation of a human induced pluripotent stem cell lines (UKJi003-A) from a patient with Fabry disease and healthy donor (UKJi004-A)
Summary
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. Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Bekhite MM, Hübner S, Kretzschmar T, Backsch C, Weise A, Klein E, Bogoviku J, Westphal J, Schulze PC |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Dec 3;82:103620 |
| PubMed | 39701018 |
| DOI | 10.1016/j.scr.2024.103620 |