title: Understanding the molecular basis of autism in a dish using hiPSCs-derived neurons from ASD patients.
abstract: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder characterized by deficits in social cognition, language development, and repetitive/restricted behaviors. Due to the complexity and heterogeneity of ASD and lack of a proper human cellular model system, the pathophysiological mechanism of ASD during the developmental process is largely unknown. However, recent progress in induced pluripotent stem cell (iPSC) technology as well as in vitro neural differentiation techniques have allowed us to functionally characterize neurons and analyze cortical development during neural differentiation. These technical advances will increase our understanding of the pathogenic mechanisms of heterogeneous ASD and help identify molecular biomarkers for patient stratification as well as personalized medicine. In this review, we summarize our current knowledge of iPSC generation, differentiation of specific neuronal subtypes from iPSCs, and phenotypic characterizations of human ASD patient-derived iPSC models. Finally, we discuss the current limitations of iPSC technology and future directions of ASD pathophysiology studies using iPSCs.
authors.affiliation: Department of Biological Sciences, College of Natural Sciences, Seoul National University, Gwanangno 599, Seoul, Gwanak-gu, 151-747, Korea.
authors.forename: Chae-Seok
authors.initials: CS
authors.lastname: Lim
authors.affiliation: Department of Biological Sciences, College of Natural Sciences, Seoul National University, Gwanangno 599, Seoul, Gwanak-gu, 151-747, Korea.
authors.forename: Jung-Eun
authors.initials: JE
authors.lastname: Yang
authors.affiliation: Department of Biological Sciences and Biotechnology, College of Life Science and NanoTechnology, Hannam University, Jeonmin-dong 461-6, Daejeon, Yuseong-gu, 305-811, Korea.
authors.forename: You-Kyung
authors.initials: YK
authors.lastname: Lee
authors.affiliation: Department of Anatomy, Kyungpook National University Graduate School of Medicine, Dongin-dong 2-101, Daegu, Jung-gu, 700-422, Korea.
authors.forename: Kyungmin
authors.initials: K
authors.lastname: Lee
authors.affiliation: Department of Biological Sciences and Biotechnology, College of Life Science and NanoTechnology, Hannam University, Jeonmin-dong 461-6, Daejeon, Yuseong-gu, 305-811, Korea. leeja@hnu.kr.
authors.forename: Jin-A
authors.initials: JA
authors.lastname: Lee
authors.affiliation: Department of Biological Sciences, College of Natural Sciences, Seoul National University, Gwanangno 599, Seoul, Gwanak-gu, 151-747, Korea. kaang@snu.ac.kr.
authors.forename: Bong-Kiun
authors.initials: BK
authors.lastname: Kaang
mesh_terms: D000067877:Autism Spectrum Disorder / Q000235:genetics* / Q000473:pathology*; D002454:Cell Differentiation; D065150:Cellular Reprogramming; D058732:Embryoid Bodies / Q000166:cytology; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000166:cytology*; D009474:Neurons / Q000166:cytology*