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 (UOMi008-A)。
Generation of new human iPSC cell line (UOMi008-A) from a Hypophosphatasia patient.
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 Oct;64:102891. doi: 10.1016/j.scr.2022.102891. Epub 2022 Aug 9.
A new induced pluripotent stem cell (iPSC) line namely UOMi008-A was generated from a patient having a childhood onset of Hypophosphatasia (HPP). This patient has compound heterozygous mutations c.571G > A (p.Glu191Lys) and c.1001G > A (p.Gly334Asp) in the ALPL gene respectively. This iPSC line will be used for in vitro disease modeling, which will aid in delineating the underlying molecular mechanism involved in disease pathogenesis and provide plausible new therapeutic directions.
一个新的诱导多能干细胞（iPSC）系，即 UOMi008-A，是从一名患有儿童期起病的低磷酸酯酶症（HPP）患者中产生的。该患者在 ALPL 基因中分别存在复合杂合突变 c.571G>A（p.Glu191Lys）和 c.1001G>A（p.Gly334Asp）。这个 iPSC 系将用于体外疾病建模，这将有助于阐明疾病发病机制中涉及的潜在分子机制，并提供合理的新治疗方向。
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