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Stem Cell Res. 2018 Mar;27:86-89. doi: 10.1016/j.scr.2018.01.011. Epub 2018 Jan 9.

Generation of induced pluripotent stem cell line, CSSi002-A (2851), from a patient with juvenile Huntington Disease.

Author information

1
IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, Italy. Electronic address: j.rosati@css-mendel.it.
2
IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, Italy.
3
Biotechnology and Bioscience Department Bicocca University, Piazza della Scienza 2, Milan 20126, Italy.
4
IRCCS Casa Sollievo della Sofferenza, Cytogenetic Unit, Viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, Italy.
5
IRCCS Casa Sollievo della Sofferenza, Molecular Genetics Unit, Viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, Italy.
6
IRCCS Casa Sollievo della Sofferenza, Huntington and Rare Disease Unit, Viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, Italy.

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 20years 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.

PMID:
29342448
DOI:
10.1016/j.scr.2018.01.011
[Indexed for MEDLINE]
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