Huntington Disease (HD) is an autosomal dominant disorder characterized by motor, cognitive and behavioral features caused by a CAG expansion in the HTT gene beyond 35 repeats. The juvenile form (JHD) may begin before the age of 20 years and is associated with expanded alleles as long as 60 or more CAG repeats. In this study, induced pluripotent stem cells were generated from skin fibroblasts of a 8-year-old child carrying a large size mutation of 84 CAG repeats in the HTT gene. HD appeared at age 3 with mixed psychiatric (i.e. autistic spectrum disorder) and motor (i.e. dystonia) manifestations.
Rosati, J., Bidollari, E., Rotundo, G., Ferrari, D., Torres, B., Bernardini, L., et al. (2018). Generation of induced pluripotent stem cell line, CSSi002-A (2851), from a patient with juvenile Huntington Disease. STEM CELL RESEARCH, 27, 86-89 [10.1016/j.scr.2018.01.011].
Generation of induced pluripotent stem cell line, CSSi002-A (2851), from a patient with juvenile Huntington Disease
Rosati, Jessica
Primo
;Ferrari, Daniela;Vescovi, Angelo LuigiUltimo
2018
Abstract
Huntington Disease (HD) is an autosomal dominant disorder characterized by motor, cognitive and behavioral features caused by a CAG expansion in the HTT gene beyond 35 repeats. The juvenile form (JHD) may begin before the age of 20 years and is associated with expanded alleles as long as 60 or more CAG repeats. In this study, induced pluripotent stem cells were generated from skin fibroblasts of a 8-year-old child carrying a large size mutation of 84 CAG repeats in the HTT gene. HD appeared at age 3 with mixed psychiatric (i.e. autistic spectrum disorder) and motor (i.e. dystonia) manifestations.
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