Bekhite Mohamed M, Hübner Sascha, Kretzschmar Tom, Backsch Claudia, Weise Anja, Klein Elisabeth, Bogoviku Jürgen, Westphal Julian, Schulze P Christian
Department of Internal Medicine I, Division of Cardiology, University Hospital Jena, FSU Jena, Germany.
Department of Internal Medicine I, Division of Cardiology, University Hospital Jena, FSU Jena, Germany.
Stem Cell Res. 2025 Feb;82:103620. doi: 10.1016/j.scr.2024.103620. Epub 2024 Dec 3.
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.
法布里病（FD，OMIM #301500）是一种罕见的代谢紊乱疾病，属于X连锁糖鞘脂贮积症，其特征是GLA（α-半乳糖苷酶）基因（OMIM *300644）发生致病性突变，导致α-半乳糖苷酶A（α-GAL）活性降低，以及组织和器官中球三糖神经酰胺（Gb3）蓄积。外周血单个核细胞（PBMCs）被用于生成人诱导多能干细胞（hiPSC）。UKJi004-A由一名健康供体产生，而UKJi003-A由一名患有GLA突变（IVS6-10G>A）的法布里病患者产生。为了生成UKJi003-A和UKJi004-A，将表达四种重编程因子OCT4、SOX2、KLF4和cMYC的非整合仙台病毒（SeV）载体导入PBMCs。重编程后确认了hiPSC系的多能性。
