Ontology highlight
ABSTRACT:
SUBMITTER: An MC
PROVIDER: S-EPMC3608272 | biostudies-literature | 2012 Aug
REPOSITORIES: biostudies-literature
An Mahru C MC Zhang Ningzhe N Scott Gary G Montoro Daniel D Wittkop Tobias T Mooney Sean S Melov Simon S Ellerby Lisa M LM
Cell stem cell 20120628 2
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, and that the correction persists in iPSC differentiation into DARPP-32-positive neur ...[more]