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

Janine Petters; Chiara Cimmaruta; Katharina Iwanov; Matthew L Chang; Christin Völkner; Gudrun Knuebel; Hugo Murua Escobar; Moritz J Frech; Andreas Hermann; Arndt Rolfs; Jan Lukas

doi:10.1016/j.scr.2020.101708

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

Stem Cell Res. 2020 Mar:43:101708. doi: 10.1016/j.scr.2020.101708. Epub 2020 Jan 27.

Authors

Affiliations

¹ Translational Neurodegeneration Section "Albrecht-Kossel", Department of Neurology, University Medical Center Rostock, 18147 Rostock, Germany.
² Department of Medicine, Clinic III - Hematology, Oncology, Palliative Medicine, University Medical Center Rostock, 18057 Rostock, Germany.
³ Translational Neurodegeneration Section "Albrecht-Kossel", Department of Neurology, University Medical Center Rostock, 18147 Rostock, Germany; Center for Transdisciplinary Neurosciences Rostock (CTNR), University Medical Center Rostock, University of Rostock, 18147 Rostock, Germany.
⁴ Translational Neurodegeneration Section "Albrecht-Kossel", Department of Neurology, University Medical Center Rostock, 18147 Rostock, Germany; Center for Transdisciplinary Neurosciences Rostock (CTNR), University Medical Center Rostock, University of Rostock, 18147 Rostock, Germany; German Center for Neurodegenerative Diseases (DZNE) Rostock/Greifswald, 18147 Rostock, Germany.
⁵ Centogene AG, 18055 Rostock, Germany; University Medical Center Rostock, University of Rostock, 18057 Rostock, Germany.
⁶ Translational Neurodegeneration Section "Albrecht-Kossel", Department of Neurology, University Medical Center Rostock, 18147 Rostock, Germany; Center for Transdisciplinary Neurosciences Rostock (CTNR), University Medical Center Rostock, University of Rostock, 18147 Rostock, Germany. Electronic address: jan.lukas@med.uni-rostock.de.

PMID: 32028086
DOI: 10.1016/j.scr.2020.101708

Abstract

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Female
Hepatolenticular Degeneration / genetics*
Humans
Induced Pluripotent Stem Cells / metabolism*