Generation of induced pluripotent stem cell lines from nonaffected parents and monozygotic triplets affected with autism spectrum disorder and epilepsy

[摘要] We have generated induced pluripotent stem cell (iPSC) lines from monozygotic triplets with a rare homozygous mutation in NAPB gene (c.354+2T>G). iPSC lines were also generated from their consanguineous parents who were both heterozygous for the inherited NAPB mutation. The iPSC lines were generated using non-integrating Sendai viral vectors. All iPSC lines showed prototypical stem cell morphology, expressed pluripotency markers and were able to differentiate to all three germ lineages. These iPSC lines will be useful to explore the molecular function of NAPB in neurophysiology and how its dysfunction potentially contributes to the progression of neurodevelopmental disorders associated with autism and epilepsy.

[学科分类] 生理学