Generation of two induced pluripotent stem cell lines from a female adult homozygous for the Wilson disease associated ATP7B variant p.H1069Q (AKOSi008-A) and a healthy control (AKOSi009-A)

Summary

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

Authors Petters J, Völkner C, Krohn S, Murua Escobar H, Bullerdiek J, Reuner U, Frech MJ, Hermann A, Lukas J
Journal Stem cell research
Publication Date 2020 Nov 5;49:102079
PubMed 33197697
DOI 10.1016/j.scr.2020.102079

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