Generation of an induced pluripotent stem cell line (HZSMHCi002-A) from a patient with neuronal intranuclear inclusion disease carrying GGC repeat expansion in the NOTCH2NLC gene
Summary
The NOTCH2NLC gene contains a GGC repeat expansion in its 5' untranslated region. This expansion is associated with neuronal intranuclear inclusion disease (NIID). NIID is a rare neurodegenerative disorder. Its clinical features include cognitive decline, paroxysmal symptoms, and autonomic dysfunction. We generated an induced pluripotent stem cell (iPSC) line from a female patient's PBMCs carrying a high GGC repeat expansion in NOTCH2NLC. The iPSC line displayed typical pluripotent morphology. It expressed key pluripotency markers and demonstrated differentiation potential in teratoma assays. This cell line serves as a useful model for studying disease mechanisms and developing therapeutic strategies. Copyright © 2025 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Ren X, Zhou C, Jiang Y, Zhao J, Tina X, Xu N, Fu M, Ni P, Li T, Zhang X |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2025 Jun 28;87:103761 |
| PubMed | 40609325 |
| DOI | 10.1016/j.scr.2025.103761 |