Generation of induced pluripotent stem cell lines AKOSi002-A and AKOSi003-A from symptomatic female adults with Wilson disease


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. Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Petters J, Cimmaruta C, Iwanov K, Chang ML, Völkner C, Knuebel G, Murua Escobar H, Frech MJ, Hermann A, Rolfs A, Lukas J
Journal Stem cell research
Publication Date 2020 Mar;43:101708
PubMed 32028086
DOI 10.1016/j.scr.2020.101708

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