학술논문
Generation of induced pluripotent stem cell line, CSSi002-A (2851), from a patient with juvenile Huntington Disease
Document Type
article
Author
Source
Stem Cell Research, Vol 27, Iss , Pp 86-89 (2018)
Subject
Language
English
ISSN
1873-5061
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.