从一名低磷酸酯酶症患者中生成新的人诱导多能干细胞系（UOMi010-A）。

Generation of a new human iPSC cell line (UOMi010-A) from a patient with hypophosphatasia.

作者信息

Srivastava Abhay, Walker Dylan, Uzonna Jason, 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, 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. 2025 Sep;87:103775. doi: 10.1016/j.scr.2025.103775. Epub 2025 Jul 11.

DOI:10.1016/j.scr.2025.103775

PMID:40652798

Abstract

Hypophosphatasia (HPP) is characterized by loss of function variants in the alkaline phosphatase (ALPL) gene that leads to impaired mineralization in bones and teeth. It is a rare inherited metabolic disorder which has prenatal, perinatal, juvenile, and adult-onset clinical presentations. In order to delineate molecular mechanisms underlying HPP and to screen new potential effective drug therapies, we have generated a patient specific iPSC cell line (UOMi010-A) from the patient's peripheral blood mononuclear cells (PBMCs). The patient is 62 yr. old female with a heterozygous pathogenic variant in the ALPL gene at c.551G > A (p.Arg184Gln).

摘要

低磷酸酯酶症（HPP）的特征是碱性磷酸酶（ALPL）基因功能缺失变异，导致骨骼和牙齿矿化受损。它是一种罕见的遗传性代谢紊乱疾病，具有产前、围产期、青少年期和成人发病的临床表现。为了阐明HPP的分子机制并筛选新的潜在有效药物疗法，我们从患者的外周血单核细胞（PBMC）中生成了患者特异性诱导多能干细胞系（UOMi010-A）。该患者为62岁女性，其ALPL基因存在c.551G>A（p.Arg184Gln）杂合致病变异。