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Stem Cell Res. 2018 May;29:174-178. doi: 10.1016/j.scr.2018.04.008. Epub 2018 Apr 21.

Generation of the induced pluripotent stem cell line CSSi006-A (3681) from a patient affected by advanced-stage Juvenile Onset Huntington's Disease.

Author information

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

Abstract

Juvenile Onset Huntington's Disease (JOHD) is a rare variant of HD withage of onset ≤20 years, accounting for 3-10% of all HD patients. The rarity occurrence of JOHD cases, who severely progress towards mental and physical disability with atypical clinical manifestations compared to classical HD, are responsible of general lack of knowledge about this variant. We obtained a fully reprogrammed iPS cell line from fibroblasts of a JOHD patient carrying 65 CAG repeats and age at onset at age 15. At the biopsy time, the patient showed an advanced stage after 10 years of disease.

PMID:
29704769
DOI:
10.1016/j.scr.2018.04.008
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