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Article

Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome.

Nature medicine - 27 Nov 2011

Paşca Sergiu P, Portmann Thomas, Voineagu Irina, Yazawa Masayuki, Shcheglovitov Aleksandr, Paşca Anca M, Cord Branden, Palmer Theo D, Chikahisa Sachiko, Nishino Seiji, Bernstein Jonathan A, Hallmayer Joachim, Geschwind Daniel H, Dolmetsch Ricardo E

Abstract excerpt

Monogenic neurodevelopmental disorders provide key insights into the pathogenesis of disease and help us understand how specific genes control the development of the human brain. Timothy syndrome is caused by a missense mutation in the L-type calcium channel Ca(v)1.2 that is associated with developmental delay and autism. We generated cortical neuronal precursor cells and neurons from induced pluripotent stem...

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Identifiers

PMID: 22120178
DOI: 10.1038/nm.2576
PMCID: PMC3517299

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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