Generation of an induced pluripotent stem cell line (PNUYHi003-A) from peripheral blood mononuclear cells of a patient with neuronal intranuclear inclusion disease
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.
Authors
- Na‐Yeon Jung (ORCID: https://orcid.org/0000-0002-8265-9508)
- Takeshi Mizuguchi (ORCID: https://orcid.org/0000-0003-4998-1244)
- Mi Kyoung Kim (ORCID: https://orcid.org/0000-0003-1337-2244)
- Naomichi Matsumoto (ORCID: https://orcid.org/0000-0001-9846-6500)
- Eun Joo Kim (ORCID: https://orcid.org/0000-0003-3061-2051)
- Tae Yun Kim (ORCID: https://orcid.org/0000-0003-0605-9575)
- Jae‐Hyeok Lee (ORCID: https://orcid.org/0000-0002-4274-7415)
Institutions
- Pusan National University Hospital (KR)
- Pusan National University Yangsan Hospital (KR)
- Yokohama City University (JP)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2025-04-16
- DOI
- https://doi.org/10.1016/j.scr.2025.103717
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Takeda Science Foundation
- Japan Agency for Medical Research and Development
- National Research Foundation of Korea
- Japan Society for the Promotion of Science