Generation of an induced pluripotent stem cell line (PNUYHi003-A) from peripheral blood mononuclear cells of a patient with neuronal intranuclear inclusion disease
Summary
Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disordercharacterized by eosinophilic hyaline intranuclear inclusions in the nervous system. NIID is associated with GGC repeat expansions in the 5' untranslatedregion of the NOTCH2NLC gene. The induced pluripotent stem cells (iPSC), generated from peripheral blood mononuclear cells of a 75-year-old male patient with NIID, exhibited stem cell marker expression, normal karyotype, absence of viral factors, successful differentiation into the three germ layers, and were analyzed for GGC repeat expansion. These patient-derived iPSCs have promising potential for exploring the genetic mechanisms underlying NIID. Copyright © 2025 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Kim TY, Kim MK, Mizuguchi T, Matsumoto N, Lee JH, Kim EJ, Jung NY |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2025 Apr 16;86:103717 |
| PubMed | 40267536 |
| DOI | 10.1016/j.scr.2025.103717 |