Generation of a human induced pluripotent stem cell line (hiPSC) from a patient with DLG4-related synaptopathy (AOUMEYi004-A) and a novel heterozygous de novo nonsense DLG4 variant c.2155A > T p.(Arg719*)
Summary
DLG4-related synaptopathy, also known as SHINE-syndrome, is a rare neurodevelopmental disorder caused by heterozygous de novo pathogenic variants in the DLG4 gene. DLG4 encodes the PSD-95 protein, which plays a crucial role in regulating the postsynaptic domain (PSD) of glutamatergic neurons. We established the diagnosis in a 37-year-old man, by whole exome sequencing, heterozygous for the novel variant c.2155A > T; p.(Arg719*), then generated and characterized the iPSC line derived from the patient in order to model the neurodevelopmental disorder. The AOUMEYi004-A line exhibits a normal karyotype and a positive expression of pluripotency markers and originates cells representing the three embryonic germ layers. Copyright © 2026. Published by Elsevier B.V.
| Authors | Feo F, Falliano S, Caciotti A, Rinaldi M, Giunti L, Calamai M, Pantaleo M, Peron A, Tramacere L, Guerrini R, Morrone A, Tonin R |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2026 Jul 11;95:104059 |
| PubMed | 42462545 |
| DOI | 10.1016/j.scr.2026.104059 |