Cellular Phenotypes in Human iPSC-Derived Neurons from a Genetic Model of Autism Spectrum Disorder.
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ABSTRACT:
SUBMITTER: Deshpande A
PROVIDER: S-EPMC5730067 | biostudies-literature | 2017 Dec
REPOSITORIES: biostudies-literature
Publications
Cellular Phenotypes in Human iPSC-Derived Neurons from a Genetic Model of Autism Spectrum Disorder.
Deshpande Aditi A Yadav Smita S Dao Dang Q DQ Wu Zhi-Yong ZY Hokanson Kenton C KC Cahill Michelle K MK Wiita Arun P AP Jan Yuh-Nung YN Ullian Erik M EM Weiss Lauren A LA
Cell reports 20171201 10
A deletion or duplication in the 16p11.2 region is associated with neurodevelopmental disorders, including autism spectrum disorder and schizophrenia. In addition to clinical characteristics, carriers of the 16p11.2 copy-number variant (CNV) manifest opposing neuroanatomical phenotypes-e.g., macrocephaly in deletion carriers (16pdel) and microcephaly in duplication carriers (16pdup). Using fibroblasts obtained from 16pdel and 16pdup carriers, we generated induced pluripotent stem cells (iPSCs) a ...[more]
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