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Article

Functional Consequences of CHRNA7 Copy-Number Alterations in Induced Pluripotent Stem Cells and Neural Progenitor Cells.

American journal of human genetics - 7 Dec 2017

Gillentine Madelyn A, Yin Jiani, Bajic Aleksandar, Zhang Ping, Cummock Steven, Kim Jean J, Schaaf Christian P

Abstract excerpt

Copy-number variants (CNVs) of chromosome 15q13.3 manifest clinically as neuropsychiatric disorders with variable expressivity. CHRNA7, encoding for the α7 nicotinic acetylcholine receptor (nAChR), has been suggested as a candidate gene for the phenotypes observed. Here, we used induced pluripotent stem cells (iPSCs) and neural progenitor cells (NPCs) derived from individuals with heterozygous 15q13.3 deletions...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29129316
DOI: 10.1016/j.ajhg.2017.09.024
PMCID: PMC5812918

Genes

CHRNA7

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