对一名低磷酸酯酶症患者的外周血单个核细胞进行重编程，以生成诱导多能干细胞系（UOMi011-A）。
Reprogramming of peripheral blood mononuclear cells from a patient with hypophosphatasia to generate iPSC line (UOMi011-A).
作者信息
Srivastava Abhay, Sareen Niketa, Rockman-Greenberg Cheryl, Dhingra Sanjiv
机构信息
Institute of Cardiovascular Sciences, St. Boniface Hospital Albrechtsen Research Centre, Regenerative Medicine Program, Department of Physiology and Pathophysiology, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba.
Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba.
出版信息
Stem Cell Res. 2025 Sep;87:103774. doi: 10.1016/j.scr.2025.103774. Epub 2025 Jul 11.
Hypophosphatasia (HPP) is a rare inherited metabolic disorder predominantly affecting bones and teeth. HPP can manifest throughout the life cycle from in utero, to perinatal and infantile (before 6 months of age) presentations, to onset in childhood through adulthood. We report a new cell line (UOMi011-A) generated from a 7 yr. old female with perinatal HPP. The patient exhibits homozygous c.1001G > A (p.Gly334Asp) mutation in the ALPL gene. This cell line will be used for studying the molecular, cellular and developmental mechanisms in context to the mutation and disorder. It will also be used to screen potential therapeutic avenues.
低磷酸酯酶症（HPP）是一种罕见的遗传性代谢紊乱疾病，主要影响骨骼和牙齿。HPP可在整个生命周期中表现出来，从子宫内、围产期和婴儿期（6个月龄前）发病，到儿童期直至成年期发病。我们报告了一种新的细胞系（UOMi011-A），它由一名患有围产期HPP的7岁女性生成。该患者在ALPL基因中表现出纯合的c.1001G>A（p.Gly334Asp）突变。这个细胞系将用于研究与该突变和疾病相关的分子、细胞和发育机制。它还将用于筛选潜在的治疗途径。
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