TY - JOUR
T1 - Generation of the induced pluripotent stem cell line CSSi006-A (3681) from a patient affected by advanced-stage Juvenile Onset Huntington's Disease
AU - Rotundo, Giovannina
AU - Bidollari, Eris
AU - Ferrari, Daniela
AU - Spasari, Iolanda
AU - Bernardini, Laura
AU - Consoli, Federica
AU - De Luca, Alessandro
AU - Santimone, Iolanda
AU - Lamorte, Giuseppe
AU - Migliore, Simone
AU - Squitieri, Ferdinando
AU - Vescovi, Angelo Luigi
AU - Rosati, Jessica
N1 - Funding Information:
This work was supported by grants from the Italian Ministry of Health : Ricerca corrente 2017 to JR and Ricerca corrente 2017 to FS, RF-2016-02364123 to FS. We thank LIRH Foundation for supporting assistance to Huntington's disease patients and families.
Funding Information:
This work was supported by grants from the Italian Ministry of Health: Ricerca corrente 2017 to JR and Ricerca corrente 2017 to FS, RF-2016-02364123 to FS. We thank LIRH Foundation for supporting assistance to Huntington's disease patients and families.
Publisher Copyright:
© 2018 The Author(s)
PY - 2018/5
Y1 - 2018/5
N2 - 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.
AB - 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.
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U2 - 10.1016/j.scr.2018.04.008
DO - 10.1016/j.scr.2018.04.008
M3 - Article
C2 - 29704769
AN - SCOPUS:85046108226
VL - 29
SP - 174
EP - 178
JO - Stem Cell Research
JF - Stem Cell Research
SN - 1873-5061
ER -