CNTN5-/+or EHMT2-/+human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks

• Published in: eLife Vol. 8
• Main Authors: Deneault, Eric, Faheem, Muhammad, White, Sean H, Rodrigues, Deivid C, Sun, Song, Wei, Wei, Piekna, Alina, Thompson, Tadeo, Howe, Jennifer L, Chalil, Leon, Kwan, Vickie, Walker, Susan, Pasceri, Peter, Roth, Frederick P, Yuen, Ryan KC, Singh, Karun K, Ellis, James, Scherer, Stephen W
• Format: Journal Article
• Language: English
• Published: England eLife Sciences Publications Ltd 12.02.2019; eLife Sciences Publications, Ltd
• Subjects: Adolescent; Adult; Autism; Autistic Disorder - physiopathology; Cells, Cultured; Child; Contactins - deficiency; Contactins - genetics; Contactins - metabolism; CRISPR; Electrophysiological Phenomena; Families & family life; Female; Genes; Genetics; Genetics and Genomics; Genomes; Genomics; Glutamatergic transmission; Heterozygote; Histocompatibility Antigens - genetics; Histocompatibility Antigens - metabolism; Histone-Lysine N-Methyltransferase - deficiency; Histone-Lysine N-Methyltransferase - genetics; Histone-Lysine N-Methyltransferase - metabolism; Humans; Hyperactivity; Immunoglobulins; Induced Pluripotent Stem Cells - physiology; iPSC; Kinesin - genetics; Kinesin - metabolism; Male; Medical research; Middle Aged; Models, Theoretical; Nerve Net - physiology; Nerve Tissue Proteins - genetics; Nerve Tissue Proteins - metabolism; Neural networks; Neural stem cells; Neurons - physiology; Neuroscience; NGN2-neurons; Patch-Clamp Techniques; Phenotypes; Pluripotency; Research Communication; Stem cells; Ubiquitin-Conjugating Enzymes - genetics; Ubiquitin-Conjugating Enzymes - metabolism; Young Adult; Zinc Finger Protein Gli3 - genetics; Zinc Finger Protein Gli3 - metabolism; Canada; United States > US; CRISPR; genetics; neuroscience; iPSC; genomics; human; NGN2-neurons; autism

Induced pluripotent stem cell (iPSC)-derived neurons are increasingly used to model Autism Spectrum Disorder (ASD), which is clinically and genetically heterogeneous. To study the complex relationship of penetrant and weaker polygenic risk variants to ASD, ‘isogenic’ iPSC-derived neurons are critica...