尼曼-皮克C2型患者来源的诱导多能干细胞系AKOSi001-A的产生。

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

作者信息

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

机构信息

Translational Neurodegeneration Section "Albrecht-Kossel", Department of Neurology, University Medical Center Rostock, Gehlsheimer Straße 20, Rostock 18147, Germany.

Department of Medicine, Clinic III - Hematology, Oncology, Palliative Medicine, University Medical Center Rostock, Ernst-Heydemann-Straße 6, Rostock 18057, Germany.

出版信息

Stem Cell Res. 2019 Dec;41:101606. doi: 10.1016/j.scr.2019.101606. Epub 2019 Oct 15.

DOI:10.1016/j.scr.2019.101606

PMID:31669975

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. 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.

摘要

C型尼曼-匹克病（NPC）是一种罕见的进行性神经退行性疾病，发病率为1:120,000，由NPC1或NPC2基因突变引起。只有5%的NPC患者患有NPC2基因突变。在此，我们展示了C2型尼曼-匹克病（NPC2）患者来源的诱导多能干细胞系的生成。该细胞系能够分化为神经谱系的衍生物，为研究NPC2的致病机制提供了一个有价值的工具。