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

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 disabilitywith atypical clinical manifestations compared to classical HD, are responsible of general lack of knowledge about this variant. We obtained a fully reprogrammediPS cell line from fibroblasts of a JOHD patient carrying 65 CAG repeats and ageat onsetat age 15. At the biopsy time, the patient showed an advanced stage after 10 years of disease.