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Biallelic Mutations inTSC2Lead to Abnormalities Associated with Cortical Tubers in Human iPSC-Derived Neurons

7 Oct 2019

Abstract excerpt

Tuberous sclerosis complex (TSC) is a genetic disorder caused by mutations inTSC1orTSC2. Patients frequently have epilepsy, autism spectrum disorder, and/or intellectual disability, as well as other systemic manifestations. In this study, we differentiated human induced pluripotent stem cells (iPSCs) from a female patient with TSC with one or two mutations inTSC2into neurons using induced expression of NGN2 to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 31591157
DOI: 10.1523/jneurosci.0642-19.2019

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