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Human iPSC-derived neuron of 16p11.2 deletion reveals haplotype-specific expression of <i>MAPK3</i> and its contribution to variable NDD phenotypes

2022-07-11

Abstract excerpt

<h4>ABSTRACT</h4> Recurrent proximal 16p11.2 deletion (16p11.2del) is risk factor of diverse neurodevelopmental disorders (NDDs) with variable penetrance. Although previous human induced pluripotent stem cell (hiPSC) models of 16p11.2del confirmed disrupted neuron development, it is not known which gene(s) at this interval are mainly responsible for the abnormal cellular phenotypes and how the NDD penetrance is r...

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Literature Corpus work
08e3d0c4-ac5c-5f0f-a957-10b9bf1794bd
DOI
10.1101/2022.07.10.498576
Open publication

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Human iPSC-derived neuron of 16p11.2 deletion reveals haplotype-specific expression of <i>MAPK3</i> and its contribution to variable NDD phenotypesDOI 10.1101/2022.07.10.498576
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