TY - JOUR
T1 - Generation of induced pluripotent stem cell line, CSSi002-A (2851), from a patient with juvenile Huntington Disease
AU - Rosati, Jessica
AU - Bidollari, Eris
AU - Rotundo, Giovannina
AU - Ferrari, Daniela
AU - Torres, Barbara
AU - Bernardini, Laura
AU - Consoli, Federica
AU - De Luca, Alessandro
AU - Santimone, Iolanda
AU - Lamorte, Giuseppe
AU - Squitieri, Ferdinando
AU - Vescovi, Angelo Luigi
PY - 2018/3/1
Y1 - 2018/3/1
N2 - 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.
AB - 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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U2 - 10.1016/j.scr.2018.01.011
DO - 10.1016/j.scr.2018.01.011
M3 - Article
AN - SCOPUS:85041603803
VL - 27
SP - 86
EP - 89
JO - Stem Cell Research
JF - Stem Cell Research
SN - 1873-5061
ER -