Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA)

Publication date: Available online 27 August 2019Source: Stem Cell ResearchAuthor(s): Eris Bidollari, Giovannina Rotundo, Filomena Altieri, Mariangela Amicucci, Daniele Wiquel, Daniela Ferrari, Marina Goldoni, Laura Bernardini, Federica Consoli, Alessandro De Luca, Sergio Fanelli, Giuseppe Lamorte, Leonardo D'Agruma, Angelo Luigi Vescovi, Ferdinando Squitieri, Jessica RosatiAbstractDentato-Rubral-pallidoluysian atrophy (DRPLA) is a rare autosomal, dominant, progressive neurodegenerative disease that causes involuntary movements, mental and emotional problems. DRPLA is caused by a mutation in the ATN1 gene that encodes for an abnormal polyglutamine stretch in the atrophin-1 protein. DRPLA is most common in the Japanese population, where it has an estimated incidence of 2 to 7 per million people. This condition has also been seen in families from North America and Europe. We obtained a reprogrammed iPSC line from a Caucasian patient with a juvenile onset of the disease, carrying 64 CAG repeat expansion in the ATN1 gene.
Source: Stem Cell Research - Category: Stem Cells Source Type: research