Petters Janine, Völkner Christin, Krohn Saskia, Murua Escobar Hugo, Bullerdiek Jörn, Reuner Ulrike, Frech Moritz J, Hermann Andreas, Lukas Jan
Translational Neurodegeneration Section Albrecht-Kossel, Department of Neurology, University Medical Center Rostock, 18147 Rostock, Germany.
Department of Medicine, Clinic III - Hematology, Oncology, Palliative Medicine, University Medical Center Rostock, 18057 Rostock, Germany.
Stem Cell Res. 2020 Dec;49:102079. doi: 10.1016/j.scr.2020.102079. Epub 2020 Nov 5.
Wilson disease (WD) is a rare, monogenic disorder caused by mutations in the gene ATP7B. A loss of function of the expressed protein leads to excessive hepatic and cerebral copper storage. In this study, we present the generation of two induced pluripotent stem cell (iPSC) lines derived from fibroblasts of a clinically asymptomatic, chelator treated female WD patient carrying the common missense mutation p.H1069Q and an age-matched female healthy control subject. The generated iPSC lines expressed pluripotency markers, showed differentiation potential and retained their parental genotype. Therefore, these cells provide a valuable resource to understand the pathophysiology of WD and can be used as model systems for drug testing.
威尔逊病（WD）是一种由ATP7B基因突变引起的罕见单基因疾病。所表达蛋白质的功能丧失会导致肝脏和大脑中铜过度蓄积。在本研究中，我们展示了从一名临床无症状、经螯合剂治疗的携带常见错义突变p.H1069Q的女性WD患者的成纤维细胞以及一名年龄匹配的女性健康对照受试者的成纤维细胞中获得的两条诱导多能干细胞（iPSC）系。所生成的iPSC系表达多能性标志物，具有分化潜能并保留了其亲代基因型。因此，这些细胞为理解WD的病理生理学提供了宝贵资源，可作为药物测试的模型系统。
