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Article

Using induced pluripotent stem cells to investigate human neuronal phenotypes in 1q21.1 deletion and duplication syndrome.

Molecular psychiatry - 1 Feb 2022

Chapman Gareth, Alsaqati Mouhamed, Lunn Sharna, Singh Tanya, Linden Stefanie C, Linden David E J, van den Bree Marianne B M, Ziller Mike, Owen Michael J, Hall Jeremy, Harwood Adrian J, Syed Yasir Ahmed

Abstract excerpt

Copy Number Variation (CNV) at the 1q21.1 locus is associated with a range of neurodevelopmental and psychiatric disorders in humans, including abnormalities in head size and motor deficits. Yet, the functional consequences of these CNVs (both deletion and duplication) on neuronal development remain unknown. To determine the impact of CNV at the 1q21.1 locus on neuronal development, we generated induced...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34112971
DOI: 10.1038/s41380-021-01182-2
PMCID: PMC9054650

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