将低磷酸酯酶症患者细胞重编程为新的人类诱导多能干细胞系（UOMi009-A）。
Reprogramming of Hypophosphatasia patient cells to generate a new human iPSC cell line (UOMi009-A).
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, Winnipeg, Canada.
Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Canada.
出版信息
Stem Cell Res. 2022 Oct;64:102921. doi: 10.1016/j.scr.2022.102921. Epub 2022 Sep 17.
In this study we report reprogramming and generation of a new human induced pluripotent stem cell line UOMi009_A, which was generated from a 64 year old male patient with childhood onset Hypophosphatasia (HPP). The patient has compound heterozygous mutations in the ALPL gene (c.571G>A (p.Glu191Lys) and c.1001G>A (p.Gly334Asp)) which were confirmed in the UOMi009_A line. This line was well characterized and will help in our future assessment of HPP disease pathophysiology and drug screening.
在这项研究中，我们报告了重新编程和生成一种新的人类诱导多能干细胞系 UOMi009_A，该细胞系来自一名 64 岁的男性患者，该患者患有儿童期发病的低磷酸酯酶症（HPP）。该患者在 ALPL 基因中存在复合杂合突变（c.571G>A(p.Glu191Lys)和 c.1001G>A(p.Gly334Asp)），这在 UOMi009_A 系中得到了证实。该细胞系经过了良好的特征描述，将有助于我们未来评估 HPP 疾病的病理生理学和药物筛选。
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