Generation of the Niemann–Pick type C2 patient-derived iPSC line AKOSi001-A

Christin Völkner; Franziska Peter; Maik Liedtke; Saskia Krohn; Iris Lindner; Hugo Murua Escobar; Chiara Cimmaruta; Jan Lukas; Andreas Hermann; Moritz J. Frech

Stem Cell Research (Dec 2019)

Generation of the Niemann–Pick type C2 patient-derived iPSC line AKOSi001-A

Christin Völkner,
Franziska Peter,
Maik Liedtke,
Saskia Krohn,
Iris Lindner,
Hugo Murua Escobar,
Chiara Cimmaruta,
Jan Lukas,
Andreas Hermann,
Moritz J. Frech

Affiliations

Christin Völkner: Translational Neurodegeneration Section “Albrecht-Kossel”, Department of Neurology, University Medical Center Rostock, Gehlsheimer Straße 20, Rostock 18147, Germany
Franziska Peter: Translational Neurodegeneration Section “Albrecht-Kossel”, Department of Neurology, University Medical Center Rostock, Gehlsheimer Straße 20, Rostock 18147, Germany
Maik Liedtke: Translational Neurodegeneration Section “Albrecht-Kossel”, Department of Neurology, University Medical Center Rostock, Gehlsheimer Straße 20, Rostock 18147, Germany
Saskia Krohn: Department of Medicine, Clinic III – Hematology, Oncology, Palliative Medicine, University Medical Center Rostock, Ernst-Heydemann-Straße 6, Rostock 18057, Germany
Iris Lindner: Institute of Legal Medicine, University Medical Center Rostock, St.-Georg-Straße 108, Rostock 18055, Germany
Hugo Murua Escobar: Department of Medicine, Clinic III – Hematology, Oncology, Palliative Medicine, University Medical Center Rostock, Ernst-Heydemann-Straße 6, Rostock 18057, Germany
Chiara Cimmaruta: Translational Neurodegeneration Section “Albrecht-Kossel”, Department of Neurology, University Medical Center Rostock, Gehlsheimer Straße 20, Rostock 18147, Germany
Jan Lukas: Translational Neurodegeneration Section “Albrecht-Kossel”, Department of Neurology, University Medical Center Rostock, Gehlsheimer Straße 20, Rostock 18147, Germany; Center for Transdisciplinary Neurosciences Rostock (CTNR), University Medical Center Rostock, University of Rostock, Rostock 18147, Germany
Andreas Hermann: Translational Neurodegeneration Section “Albrecht-Kossel”, Department of Neurology, University Medical Center Rostock, Gehlsheimer Straße 20, Rostock 18147, Germany; Center for Transdisciplinary Neurosciences Rostock (CTNR), University Medical Center Rostock, University of Rostock, Rostock 18147, Germany; German Center for Neurodegenerative Diseases (DZNE) Rostock/Greifswald, Rostock 18147, Germany
Moritz J. Frech: Translational Neurodegeneration Section “Albrecht-Kossel”, Department of Neurology, University Medical Center Rostock, Gehlsheimer Straße 20, Rostock 18147, Germany; Center for Transdisciplinary Neurosciences Rostock (CTNR), University Medical Center Rostock, University of Rostock, Rostock 18147, Germany; Corresponding author at: Department of Neurology, Translational Neurodegeneration Section Albrecht-Kossel, Gehlsheimer Strasse 20, Rostock 18147 , Germany.

Journal volume & issue: Vol. 41

Abstract

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Niemann-Pick disease Type C (NPC) is a rare progressive neurodegenerative disorder with an incidence of 1:120,000 caused by mutations in the NPC1 or NPC2 gene. Only 5% of NPC patients suffer from mutations of the NPC2 gene. Here we demonstrate the generation of a Niemann–Pick disease Type C2 (NPC2) patient-derived induced pluripotent stem cell line. This cell line is capable to differentiate into derivatives of the neuronal lineage, providing a valuable tool to study pathogenic mechanisms of NPC2.

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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