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Article

Genetic correction of Huntington's disease phenotypes in induced pluripotent stem cells.

Cell stem cell - 3 Aug 2012

An Mahru C, Zhang Ningzhe, Scott Gary, Montoro Daniel, Wittkop Tobias, Mooney Sean, Melov Simon, Ellerby Lisa M

Abstract excerpt

Huntington's disease (HD) is caused by a CAG expansion in the huntingtin gene. Expansion of the polyglutamine tract in the huntingtin protein results in massive cell death in the striatum of HD patients. We report that human induced pluripotent stem cells (iPSCs) derived from HD patient fibroblasts can be corrected by the replacement of the expanded CAG repeat with a normal repeat using homologous recombination,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22748967
DOI: 10.1016/j.stem.2012.04.026
PMCID: PMC3608272

Genes

BDNF

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