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

Stem Cell Research (Mar 2020)

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

Affiliations

Janine Petters: Translational Neurodegeneration Section “Albrecht-Kossel”, Department of Neurology, University Medical Center Rostock, 18147 Rostock, Germany
Chiara Cimmaruta: Translational Neurodegeneration Section “Albrecht-Kossel”, Department of Neurology, University Medical Center Rostock, 18147 Rostock, Germany
Katharina Iwanov: Translational Neurodegeneration Section “Albrecht-Kossel”, Department of Neurology, University Medical Center Rostock, 18147 Rostock, Germany
Matthew L. Chang: Translational Neurodegeneration Section “Albrecht-Kossel”, Department of Neurology, University Medical Center Rostock, 18147 Rostock, Germany
Christin Völkner: Translational Neurodegeneration Section “Albrecht-Kossel”, Department of Neurology, University Medical Center Rostock, 18147 Rostock, Germany
Gudrun Knuebel: Department of Medicine, Clinic III – Hematology, Oncology, Palliative Medicine, University Medical Center Rostock, 18057 Rostock, Germany
Hugo Murua Escobar: Department of Medicine, Clinic III – Hematology, Oncology, Palliative Medicine, University Medical Center Rostock, 18057 Rostock, Germany
Moritz J. Frech: 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
Andreas Hermann: 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
Arndt Rolfs: Centogene AG, 18055 Rostock, Germany; University Medical Center Rostock, University of Rostock, 18057 Rostock, Germany
Jan Lukas: 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; Corresponding author.

Journal volume & issue: Vol. 43

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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