Petters Janine, Cimmaruta Chiara, Iwanov Katharina, Chang Matthew L, Völkner Christin, Knuebel Gudrun, Murua Escobar Hugo, Frech Moritz J, Hermann Andreas, Rolfs Arndt, 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 Mar;43:101708. doi: 10.1016/j.scr.2020.101708. Epub 2020 Jan 27.
Wilson disease (WD) is an inherited, autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene. Pathogenic single nucleotide variants (SNVs) lead to functional impairment of the copper transporting ATPase ATP7B, resulting in copper accumulation and toxicity in the liver and brain. We describe the generation of two induced pluripotent stem cell (iPSC) lines derived from fibroblasts of two female WD patients. Patient 1 is compound heterozygous for p.E1064A and p.H1069Q. Patient 2 is homozygous for p.M769V. These iPSCs represent a WD model for pathophysiological studies and pharmacological screening.
威尔逊病（WD）是一种由ATP7B基因突变引起的遗传性常染色体隐性铜代谢障碍疾病。致病性单核苷酸变异（SNV）导致铜转运ATP酶ATP7B功能受损，从而导致肝脏和大脑中铜的积累和毒性。我们描述了从两名女性WD患者的成纤维细胞中获得的两条诱导多能干细胞（iPSC）系。患者1为p.E1064A和p.H1069Q的复合杂合子。患者2为p.M769V的纯合子。这些iPSC代表了用于病理生理研究和药物筛选的WD模型。
