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

Abstract

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.