从一名低磷酸酯酶症患者中建立的新的人诱导多能干细胞系（UOMi007-A）。
Establishment of a new human iPSC cell line (UOMi007-A) from a patient with Hypophosphatasia.
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, Canada.
Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Canada.
出版信息
Stem Cell Res. 2022 Aug;63:102839. doi: 10.1016/j.scr.2022.102839. Epub 2022 Jun 8.
Hypophosphatasia (HPP) is a rare, inherited, metabolic, genetic disorder, which arises due to loss of function mutation in the alkaline phosphatase (ALPL) gene. We have created a new induced pluripotent stem cell line (UOMi007-A) from peripheral blood mononuclear cells (PBMCs) of an 18 yr. old male patient having compound heterozygous mutations in the ALPL gene c.571G>A (p.Glu191Lys) and c.1001G>A (p.Gly334Asp) respectively. This line can be used for exploration into the molecular mechanisms of disease pathophysiology, screen new potential drugs and design cell therapy studies that can be personalized or used for future patients.
低磷酸酯酶症（HPP）是一种罕见的遗传性代谢性遗传疾病，是由于碱性磷酸酶（ALPL）基因的功能丧失性突变引起的。我们从一位 18 岁男性患者的外周血单核细胞（PBMCs）中创建了一个新的诱导多能干细胞系（UOMi007-A），该患者的 ALPL 基因分别存在复合杂合突变 c.571G>A（p.Glu191Lys）和 c.1001G>A（p.Gly334Asp）。该细胞系可用于探索疾病病理生理学的分子机制，筛选新的潜在药物，并设计可个性化使用或用于未来患者的细胞治疗研究。
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