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...

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Main Authors:	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
Format:	Article
Language:	English
Published:	Elsevier 2020-03-01
Series:	Stem Cell Research
Online Access:	http://www.sciencedirect.com/science/article/pii/S1873506120300106

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spelling	doaj-6957b5486146465e8e13817aeeb774b62020-11-25T02:29:32ZengElsevierStem Cell Research1873-50612020-03-0143Generation of induced pluripotent stem cell lines AKOSi002-A and AKOSi003-A from symptomatic female adults with Wilson diseaseJanine Petters0Chiara Cimmaruta1Katharina Iwanov2Matthew L. Chang3Christin Völkner4Gudrun Knuebel5Hugo Murua Escobar6Moritz J. Frech7Andreas Hermann8Arndt Rolfs9Jan Lukas10Translational Neurodegeneration Section “Albrecht-Kossel”, Department of Neurology, University Medical Center Rostock, 18147 Rostock, GermanyTranslational Neurodegeneration Section “Albrecht-Kossel”, Department of Neurology, University Medical Center Rostock, 18147 Rostock, GermanyTranslational Neurodegeneration Section “Albrecht-Kossel”, Department of Neurology, University Medical Center Rostock, 18147 Rostock, GermanyTranslational Neurodegeneration Section “Albrecht-Kossel”, Department of Neurology, University Medical Center Rostock, 18147 Rostock, GermanyTranslational Neurodegeneration Section “Albrecht-Kossel”, Department of Neurology, University Medical Center Rostock, 18147 Rostock, GermanyDepartment of Medicine, Clinic III – Hematology, Oncology, Palliative Medicine, University Medical Center Rostock, 18057 Rostock, GermanyDepartment of Medicine, Clinic III – Hematology, Oncology, Palliative Medicine, University Medical Center Rostock, 18057 Rostock, GermanyTranslational 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, GermanyTranslational 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, GermanyCentogene AG, 18055 Rostock, Germany; University Medical Center Rostock, University of Rostock, 18057 Rostock, GermanyTranslational 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.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.http://www.sciencedirect.com/science/article/pii/S1873506120300106
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	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
spellingShingle	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 Generation of induced pluripotent stem cell lines AKOSi002-A and AKOSi003-A from symptomatic female adults with Wilson disease Stem Cell Research
author_facet	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
author_sort	Janine Petters
title	Generation of induced pluripotent stem cell lines AKOSi002-A and AKOSi003-A from symptomatic female adults with Wilson disease
title_short	Generation of induced pluripotent stem cell lines AKOSi002-A and AKOSi003-A from symptomatic female adults with Wilson disease
title_full	Generation of induced pluripotent stem cell lines AKOSi002-A and AKOSi003-A from symptomatic female adults with Wilson disease
title_fullStr	Generation of induced pluripotent stem cell lines AKOSi002-A and AKOSi003-A from symptomatic female adults with Wilson disease
title_full_unstemmed	Generation of induced pluripotent stem cell lines AKOSi002-A and AKOSi003-A from symptomatic female adults with Wilson disease
title_sort	generation of induced pluripotent stem cell lines akosi002-a and akosi003-a from symptomatic female adults with wilson disease
publisher	Elsevier
series	Stem Cell Research
issn	1873-5061
publishDate	2020-03-01
description	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.
url	http://www.sciencedirect.com/science/article/pii/S1873506120300106
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Generation of induced pluripotent stem cell lines AKOSi002-A and AKOSi003-A from symptomatic female adults with Wilson disease

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