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

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 Rosati

doi:10.1016/j.scr.2019.101551

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

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 Rosati

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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.

Original language	English (US)
Article number	101551
Journal	Stem Cell Research
Volume	40
DOIs	https://doi.org/10.1016/j.scr.2019.101551
State	Published - Oct 2019

ASJC Scopus subject areas

Developmental Biology
Cell Biology

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Bidollari, E., Rotundo, G., Altieri, F., Amicucci, M., Wiquel, D., Ferrari, D., Goldoni, M., Bernardini, L., Consoli, F., De Luca, A., Fanelli, S., Lamorte, G., D'Agruma, L., Vescovi, A. L., Squitieri, F., & Rosati, J. (2019). Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA). Stem Cell Research, 40, [101551]. https://doi.org/10.1016/j.scr.2019.101551

Bidollari, E, Rotundo, G, Altieri, F, Amicucci, M, Wiquel, D, Ferrari, D, Goldoni, M, Bernardini, L, Consoli, F, De Luca, A, Fanelli, S, Lamorte, G, D'Agruma, L, Vescovi, AL, Squitieri, F & Rosati, J 2019, 'Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA)', Stem Cell Research, vol. 40, 101551. https://doi.org/10.1016/j.scr.2019.101551

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

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.",

author = "Eris Bidollari and Giovannina Rotundo and Filomena Altieri and Mariangela Amicucci and Daniele Wiquel and Daniela Ferrari and Marina Goldoni and Laura Bernardini and Federica Consoli and {De Luca}, Alessandro and Sergio Fanelli and Giuseppe Lamorte and Leonardo D'Agruma and Vescovi, {Angelo Luigi} and Ferdinando Squitieri and Jessica Rosati",

note = "Funding Information: This work was supported by grants from the Italian Ministry of Health: Ricerca Corrente 2018-2019 to JR and Ricerca Corrente 2018 to FS. Publisher Copyright: {\textcopyright} 2019 The Authors",

year = "2019",

month = oct,

doi = "10.1016/j.scr.2019.101551",

language = "English (US)",

volume = "40",

journal = "Stem Cell Research",

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AU - Bidollari, Eris

AU - Rotundo, Giovannina

AU - Altieri, Filomena

AU - Amicucci, Mariangela

AU - Wiquel, Daniele

AU - Ferrari, Daniela

AU - Goldoni, Marina

AU - Bernardini, Laura

AU - Consoli, Federica

AU - De Luca, Alessandro

AU - Fanelli, Sergio

AU - Lamorte, Giuseppe

AU - D'Agruma, Leonardo

AU - Vescovi, Angelo Luigi

AU - Squitieri, Ferdinando

AU - Rosati, Jessica

N1 - Funding Information: This work was supported by grants from the Italian Ministry of Health: Ricerca Corrente 2018-2019 to JR and Ricerca Corrente 2018 to FS. Publisher Copyright: © 2019 The Authors

PY - 2019/10

Y1 - 2019/10

N2 - 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.

AB - 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.

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

Abstract

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