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

Abstract

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.