Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA)
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 pro...
| Main Authors: | , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2019-10-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506119301813 |
| _version_ | 1811274581132967936 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Eris Bidollari |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-12T23:21:29Z |
| format | Article |
| id | doaj.art-889f68d9edda468683d217410dde637f |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-04-12T23:21:29Z |
| publishDate | 2019-10-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-889f68d9edda468683d217410dde637f2022-12-22T03:12:30ZengElsevierStem Cell Research1873-50612019-10-0140Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA)Eris Bidollari0Giovannina Rotundo1Filomena Altieri2Mariangela Amicucci3Daniele Wiquel4Daniela Ferrari5Marina Goldoni6Laura Bernardini7Federica Consoli8Alessandro De Luca9Sergio Fanelli10Giuseppe Lamorte11Leonardo D'Agruma12Angelo Luigi Vescovi13Ferdinando Squitieri14Jessica Rosati15Fondazione IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, 71013, San Giovanni Rotondo, Foggia, ItalyFondazione IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, 71013, San Giovanni Rotondo, Foggia, ItalyFondazione IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, 71013, San Giovanni Rotondo, Foggia, ItalyFondazione IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, 71013, San Giovanni Rotondo, Foggia, ItalyFondazione IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, 71013, San Giovanni Rotondo, Foggia, ItalyBicocca University, Biotechnology and Bioscience Department, Piazza della Scienza 2, 20126 Milan, ItalyFondazione IRCCS Casa Sollievo della Sofferenza, Molecular Genetics Unit, Viale dei Cappuccini, 71013, San Giovanni Rotondo, Foggia, ItalyFondazione IRCCS Casa Sollievo della Sofferenza, Molecular Genetics Unit, Viale dei Cappuccini, 71013, San Giovanni Rotondo, Foggia, ItalyFondazione IRCCS Casa Sollievo della Sofferenza, Molecular Genetics Unit, Viale dei Cappuccini, 71013, San Giovanni Rotondo, Foggia, ItalyFondazione IRCCS Casa Sollievo della Sofferenza, Molecular Genetics Unit, Viale dei Cappuccini, 71013, San Giovanni Rotondo, Foggia, ItalyFondazione IRCCS Casa Sollievo della Sofferenza, Huntington and Rare Diseases Unit, Viale dei Cappuccini, 71013, San Giovanni Rotondo, Foggia, ItalyFondazione IRCCS Casa Sollievo della Sofferenza, Molecular Genetics Unit, Viale dei Cappuccini, 71013, San Giovanni Rotondo, Foggia, ItalyFondazione IRCCS Casa Sollievo della Sofferenza, Molecular Genetics Unit, Viale dei Cappuccini, 71013, San Giovanni Rotondo, Foggia, ItalyFondazione IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, 71013, San Giovanni Rotondo, Foggia, Italy; Corresponding authors.Fondazione IRCCS Casa Sollievo della Sofferenza, Huntington and Rare Diseases Unit, Viale dei Cappuccini, 71013, San Giovanni Rotondo, Foggia, ItalyFondazione IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, 71013, San Giovanni Rotondo, Foggia, Italy; Corresponding authors.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.http://www.sciencedirect.com/science/article/pii/S1873506119301813 |
| spellingShingle | 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 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 |
| title | Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA) |
| title_full | Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA) |
| title_fullStr | Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA) |
| title_full_unstemmed | Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA) |
| title_short | Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA) |
| title_sort | generation of induced pluripotent stem cell line cssi008 a 4698 from a patient affected by advanced stage of dentato rubral pallidoluysian atrophy drpla |
| url | http://www.sciencedirect.com/science/article/pii/S1873506119301813 |
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