Generation of an iPSC line (AKOSi004-A) from fibroblasts of a female adult NPC1 patient, carrying the compound heterozygous mutation p.Val1023Serfs*15/p.Gly992Arg and of an iPSC line (AKOSi005-A) from a female adult control individual

Christin Völkner; Maik Liedtke; Janine Petters; Jan Lukas; Hugo Murua Escobar; Gudrun Knuebel; Jörn Bullerdiek; Carsten Holzmann; Andreas Hermann; Moritz J Frech; US Food and Drug Administration Interviewees; Rn Robyn Bent; Fraser Bocell; Lili Garrard; Laura Lee Johnson; Naomi Knoble; David Reasner; Michelle Tarver; Kevin Weinfurt; Theresa Mullin

doi:10.1016/j.scr.2020.102127

Generation of an iPSC line (AKOSi004-A) from fibroblasts of a female adult NPC1 patient, carrying the compound heterozygous mutation p.Val1023Serfs*15/p.Gly992Arg and of an iPSC line (AKOSi005-A) from a female adult control individual

Stem Cell Res. 2020 Dec 15:50:102127. doi: 10.1016/j.scr.2020.102127. Online ahead of print.

Affiliations

¹ Translational Neurodegeneration Section "Albrecht-Kossel", Department of Neurology, University Medical Center Rostock, 18147 Rostock, Germany.
² 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, 18147 Rostock, Germany.
³ Department of Medicine, Clinic III - Hematology, Oncology, Palliative Medicine, University Medical Center Rostock, 18057 Rostock, Germany.
⁴ Institute for Medical Genetics, University Medical Center Rostock, 18057 Rostock, Germany.
⁵ 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, 18147 Rostock, Germany; German Center for Neurodegenerative Diseases (DZNE) Rostock/Greifswald, 18147 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, 18147 Rostock, Germany. Electronic address: moritz.frech@med.uni-rostock.de.

PMID: 33360098
DOI: 10.1016/j.scr.2020.102127

Abstract

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 leading to a massive cholesterol accumulation. Here, we describe the generation of induced pluripotent stem cells (iPSCs) of an affected female adult individual carrying the NPC1 mutation p.Val1023Serfs*15/p.Gly992Arg and an iPSC line from an unrelated healthy female adult control individual. Human iPSCs were derived from fibroblasts using retroviruses carrying the four reprogramming factors OCT4, SOX2, KLF4 and C-MYC. These lines provide a valuable resource for studying the pathophysiology of NPC and for pharmacological intervention.