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Article

Modeling neuronal consequences of autism-associated gene regulatory variants with human induced pluripotent stem cells.

Molecular autism - 12 May 2020

Ross P Joel, Mok Rebecca S F, Smith Brandon S, Rodrigues Deivid C, Mufteev Marat, Scherer Stephen W, Ellis James

Abstract excerpt

Genetic factors contribute to the development of autism spectrum disorder (ASD), and although non-protein-coding regions of the genome are being increasingly implicated in ASD, the functional consequences of these variants remain largely uncharacterized. Induced pluripotent stem cells (iPSCs) enable the production of personalized neurons that are genetically matched to people with ASD and can therefore be used to...

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Identifiers

PMID: 32398033
DOI: 10.1186/s13229-020-00333-6
PMCID: PMC7218542

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