@article{bibcite_9381,
  keywords = {Cell biology, Neuroscience, Stem cells},
  author = {Song Qu and Yue Wu and Pu Sun and Cui Song and Yanyan Wang},
  title = {A patient-specific induced pluripotent stem cell and neural stem cell resource for angelman syndrome with 15q11.2-q13 deletion},
  abstract = {Angelman syndrome (AS) is a severe neurodevelopmental disorder most commonly caused by a maternal deletion of the 15q11.2-q13 region, resulting in loss of ubiquitin protein ligase E3A (UBE3A) function. The development of targeted therapies and a deeper understanding of AS pathogenesis require the availability of genetically accurate human models. Here, we generated and characterized a novel induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a female pediatric patient with genetically confirmed deletion-type AS. The iPSC line displayed a normal karyotype, expressed key pluripotency markers, and demonstrated trilineage differentiation potential. Efficient generation of neural stem cells establishes a foundational cellular resource for future investigations of neuronal maturation and disease-specific phenotypes. This well-validated iPSC and NSC resource provides a valuable and clinically relevant platform for elucidating the molecular pathophysiology of AS in a genetically accurate human cellular context and for high-throughput screening of therapeutic compounds targeting the predominant population of patients with AS.},
  year = {2026},
  journal = {Scientific Reports},
  volume = {16},
  pages = {27002},
  month = {2026-06-13},
  issn = {2045-2322},
  url = {https://www.nature.com/articles/s41598-026-57826-2},
  doi = {10.1038/s41598-026-57826-2},
  language = {en},
}