Generation of an induced pluripotent stem cell line (ZZUi036-A) derived from skin fibroblasts of a Neuronal intranuclear inclusion disease patient with GGC repeat expansion in the NOTCH2NLC gene
Summary
Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disease characterized by cognitive impairment, extrapyramidal symptoms, white matter lesions and muscle weakness. The cause of NIID is a repeat amplification of a GGC mutation in the 5 ' untranslated region (UTR) of the NOTCH2NLC gene. Using the non-integrating Sendai virus to deliver the Klf4, OCT3/4, SOX2 and C-MYC factors, fibroblasts obtained from a NIID patient were reprogrammed to generate an induced pluripotent stem cell (iPSC) line (ZZUi036-A). Our approach provided a resource for the investigation of the mechanism of the disease, drug research, cell transplantation and gene therapy. Copyright © 2022. Published by Elsevier B.V.
| Authors | Li J, Fan Y, Fan L, Liu F, Hao X, Li M, Mao C, Xu Y, Shi C |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2022 Aug;63:102844 |
| PubMed | 35772299 |
| DOI | 10.1016/j.scr.2022.102844 |