从一名携带复合杂合突变p.Val1023Serfs*15/p.Gly992Arg的成年女性NPC1患者的成纤维细胞中生成诱导多能干细胞系（AKOSi004-A），以及从一名成年女性对照个体中生成诱导多能干细胞系（AKOSi005-A）。

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.

作者信息

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

机构信息

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

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.

出版信息

Stem Cell Res. 2020 Dec 15;50:102127. doi: 10.1016/j.scr.2020.102127.

DOI:10.1016/j.scr.2020.102127

PMID:33360098

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.

摘要

尼曼-匹克C型病（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，导致大量胆固醇积累。在此，我们描述了携带NPC1突变p.Val1023Serfs*15/p.Gly992Arg的患病成年女性个体的诱导多能干细胞（iPSC）以及来自无关健康成年女性对照个体的iPSC系的产生。人类iPSC是使用携带四种重编程因子OCT4、SOX2、KLF4和C-MYC的逆转录病毒从成纤维细胞中获得的。这些细胞系为研究NPC的病理生理学和药物干预提供了宝贵资源。