Human embryonic stem cell models of Huntington disease

JC Niclis, AO Trounson, M Dottori, AM Ellisdon… - Reproductive …, 2009 - Elsevier
Huntington disease (HD) is an incurable late-onset neurodegenerative disorder caused by a
CAG repeat expansion in exon 1 of the HD gene (HTT). The major hallmark of disease
pathology is neurodegeneration in the brain. Currently, there are no useful in-vitro human
models of HD. Recently, two human embryonic stem cell (hESC) lines carrying partial
(CAG37) and fully (CAG51) penetrant mutant alleles have been derived from affected IVF
embryos identified following preimplantation genetic diagnosis (PGD). Fluorescence …