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Stem Cell Res. 2019 Aug 27;40:101551. doi: 10.1016/j.scr.2019.101551. [Epub ahead of print]

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

Author information

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

Abstract

Dentato-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.

PMID:
31493762
DOI:
10.1016/j.scr.2019.101551
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