Generation of induced pluripotent stem cell line, CSSi004-A (2962), from a patient diagnosed with Huntington's disease at the presymptomatic stage
Huntington's disease (HD) is an incurable, autosomal dominant, hereditary neurodegenerative disorder that typically manifests itself in midlife. This pathology is linked to the deregulation of multiple, as yet unknown, cellular processes starting before HD onset. A human iPS cell line was gener...
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2018-04-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506118300588 |
| _version_ | 1818351704909807616 |
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| author | Eris Bidollari Giovannina Rotundo Daniela Ferrari Ornella Candido Laura Bernardini Federica Consoli Alessandro De Luca Iolanda Santimone Giuseppe Lamorte Andrea Ilari Ferdinando Squitieri Angelo Luigi Vescovi Jessica Rosati |
| author_facet | Eris Bidollari Giovannina Rotundo Daniela Ferrari Ornella Candido Laura Bernardini Federica Consoli Alessandro De Luca Iolanda Santimone Giuseppe Lamorte Andrea Ilari Ferdinando Squitieri Angelo Luigi Vescovi Jessica Rosati |
| author_sort | Eris Bidollari |
| collection | DOAJ |
| description | Huntington's disease (HD) is an incurable, autosomal dominant, hereditary neurodegenerative disorder that typically manifests itself in midlife. This pathology is linked to the deregulation of multiple, as yet unknown, cellular processes starting before HD onset. A human iPS cell line was generated from skin fibroblasts of a subject at the presymptomatic life stage, carrying a polyglutamine expansion in HTT gene codifying Huntingtin protein. The iPSC line contained the expected CAG expansion, expressed the expected pluripotency markers, displayed in vivo differentiation potential to the three germ layers and had a normal karyotype. |
| first_indexed | 2024-12-13T18:41:59Z |
| format | Article |
| id | doaj.art-15d6bf6e86204858b1698c45729a5078 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-12-13T18:41:59Z |
| publishDate | 2018-04-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-15d6bf6e86204858b1698c45729a50782022-12-21T23:35:11ZengElsevierStem Cell Research1873-50612018-04-0128145148Generation of induced pluripotent stem cell line, CSSi004-A (2962), from a patient diagnosed with Huntington's disease at the presymptomatic stageEris Bidollari0Giovannina Rotundo1Daniela Ferrari2Ornella Candido3Laura Bernardini4Federica Consoli5Alessandro De Luca6Iolanda Santimone7Giuseppe Lamorte8Andrea Ilari9Ferdinando Squitieri10Angelo Luigi Vescovi11Jessica Rosati12IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, ItalyIRCCS 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, ItalyIRCCS Casa Sollievo della Sofferenza, Cytogenetic Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, ItalyIRCCS Casa Sollievo della Sofferenza, Cytogenetic Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, ItalyIRCCS Casa Sollievo della Sofferenza, Molecular Genetics Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, ItalyIRCCS Casa Sollievo della Sofferenza, Molecular Genetics Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, ItalyIRCCS Casa Sollievo della Sofferenza, Huntington and Rare Disease Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, ItalyIRCCS Casa Sollievo della Sofferenza, Molecular Genetics Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, ItalyIBPM-CNR Institute of Molecular Biology and Pathology, Italian National Research Council, Rome, ItalyIRCCS Casa Sollievo della Sofferenza, Huntington and Rare Disease Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, ItalyIRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, ItalyIRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy; Corresponding author.Huntington's disease (HD) is an incurable, autosomal dominant, hereditary neurodegenerative disorder that typically manifests itself in midlife. This pathology is linked to the deregulation of multiple, as yet unknown, cellular processes starting before HD onset. A human iPS cell line was generated from skin fibroblasts of a subject at the presymptomatic life stage, carrying a polyglutamine expansion in HTT gene codifying Huntingtin protein. The iPSC line contained the expected CAG expansion, expressed the expected pluripotency markers, displayed in vivo differentiation potential to the three germ layers and had a normal karyotype.http://www.sciencedirect.com/science/article/pii/S1873506118300588 |
| spellingShingle | Eris Bidollari Giovannina Rotundo Daniela Ferrari Ornella Candido Laura Bernardini Federica Consoli Alessandro De Luca Iolanda Santimone Giuseppe Lamorte Andrea Ilari Ferdinando Squitieri Angelo Luigi Vescovi Jessica Rosati Generation of induced pluripotent stem cell line, CSSi004-A (2962), from a patient diagnosed with Huntington's disease at the presymptomatic stage Stem Cell Research |
| title | Generation of induced pluripotent stem cell line, CSSi004-A (2962), from a patient diagnosed with Huntington's disease at the presymptomatic stage |
| title_full | Generation of induced pluripotent stem cell line, CSSi004-A (2962), from a patient diagnosed with Huntington's disease at the presymptomatic stage |
| title_fullStr | Generation of induced pluripotent stem cell line, CSSi004-A (2962), from a patient diagnosed with Huntington's disease at the presymptomatic stage |
| title_full_unstemmed | Generation of induced pluripotent stem cell line, CSSi004-A (2962), from a patient diagnosed with Huntington's disease at the presymptomatic stage |
| title_short | Generation of induced pluripotent stem cell line, CSSi004-A (2962), from a patient diagnosed with Huntington's disease at the presymptomatic stage |
| title_sort | generation of induced pluripotent stem cell line cssi004 a 2962 from a patient diagnosed with huntington s disease at the presymptomatic stage |
| url | http://www.sciencedirect.com/science/article/pii/S1873506118300588 |
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