Autism NPCs from both idiopathic and CNV 16p11.2 deletion patients exhibit dysregulation of proliferation and mitogenic responses.

doi:10.1016/j.stemcr.2022.04.019

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Autism NPCs from both idiopathic and CNV 16p11.2 deletion patients exhibit dysregulation of proliferation and mitogenic responses.

Stem cell reports - 14 Jun 2022

Connacher Robert, Williams Madeline, Prem Smrithi, Yeung Percy L, Matteson Paul, Mehta Monal, Markov Anna, Peng Cynthia, Zhou Xiaofeng, McDermott Courtney R, Pang Zhiping P, Flax Judy, Brzustowicz Linda, Lu Che-Wei, Millonig James H, DiCicco-Bloom Emanuel

Abstract excerpt

Neural precursor cell (NPC) dysfunction has been consistently implicated in autism. Induced pluripotent stem cell (iPSC)-derived NPCs from two autism groups (three idiopathic [I-ASD] and two 16p11.2 deletion [16pDel]) were used to investigate if proliferation is commonly disrupted. All five individuals display defects, with all three macrocephalic individuals (two 16pDel, one I-ASD) exhibiting hyperproliferation...

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Autism NPCs from both idiopathic and CNV 16p11.2 deletion patients exhibit dysregulation of proliferation and mitogenic responses.

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