Generation of the induced pluripotent stem cell line CSSi006-A (3681) from a patient affected by advanced-stage Juvenile Onset Huntington's Disease
Juvenile Onset Huntington's Disease (JOHD) is a rare variant of HD withage of onset ≤20 years, accounting for 3–10% of all HD patients. The rarity occurrence of JOHD cases, who severely progress towards mental and physical disability with atypical clinical manifestations compared to classical H...
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2018-05-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506118301090 |
| _version_ | 1828356930884599808 |
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| author | Giovannina Rotundo Eris Bidollari Daniela Ferrari Iolanda Spasari Laura Bernardini Federica Consoli Alessandro De Luca Iolanda Santimone Giuseppe Lamorte Simone Migliore Ferdinando Squitieri Angelo Luigi Vescovi Jessica Rosati |
| author_facet | Giovannina Rotundo Eris Bidollari Daniela Ferrari Iolanda Spasari Laura Bernardini Federica Consoli Alessandro De Luca Iolanda Santimone Giuseppe Lamorte Simone Migliore Ferdinando Squitieri Angelo Luigi Vescovi Jessica Rosati |
| author_sort | Giovannina Rotundo |
| collection | DOAJ |
| description | Juvenile Onset Huntington's Disease (JOHD) is a rare variant of HD withage of onset ≤20 years, accounting for 3–10% of all HD patients. The rarity occurrence of JOHD cases, who severely progress towards mental and physical disability with atypical clinical manifestations compared to classical HD, are responsible of general lack of knowledge about this variant. We obtained a fully reprogrammed iPS cell line from fibroblasts of a JOHD patient carrying 65 CAG repeats and age at onset at age 15. At the biopsy time, the patient showed an advanced stage after 10 years of disease. |
| first_indexed | 2024-04-14T03:08:31Z |
| format | Article |
| id | doaj.art-a3491d5ed87a4716be8fd9e6a66aa077 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-04-14T03:08:31Z |
| publishDate | 2018-05-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-a3491d5ed87a4716be8fd9e6a66aa0772022-12-22T02:15:40ZengElsevierStem Cell Research1873-50612018-05-0129174178Generation of the induced pluripotent stem cell line CSSi006-A (3681) from a patient affected by advanced-stage Juvenile Onset Huntington's DiseaseGiovannina Rotundo0Eris Bidollari1Daniela Ferrari2Iolanda Spasari3Laura Bernardini4Federica Consoli5Alessandro De Luca6Iolanda Santimone7Giuseppe Lamorte8Simone Migliore9Ferdinando Squitieri10Angelo Luigi Vescovi11Jessica Rosati12IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, ItalyIRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, ItalyBiotechnology and Bioscience Department Bicocca University, Piazza della Scienza 2, Milan 20126, ItalyIRCCS Casa Sollievo della Sofferenza, Cytogenetic Unit, Viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, ItalyIRCCS Casa Sollievo della Sofferenza, Cytogenetic Unit, Viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, ItalyIRCCS Casa Sollievo della Sofferenza, Molecular Genetics Unit, Viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, ItalyIRCCS Casa Sollievo della Sofferenza, Molecular Genetics Unit, Viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, ItalyIRCCS Casa Sollievo della Sofferenza, Huntington and Rare Disease Unit, Viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, ItalyIRCCS Casa Sollievo della Sofferenza, Cytogenetic Unit, Viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, ItalyIRCCS Casa Sollievo della Sofferenza, Huntington and Rare Disease Unit, Viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, ItalyIRCCS Casa Sollievo della Sofferenza, Huntington and Rare Disease Unit, Viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, ItalyIRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, ItalyIRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, Italy; Corresponding author.Juvenile Onset Huntington's Disease (JOHD) is a rare variant of HD withage of onset ≤20 years, accounting for 3–10% of all HD patients. The rarity occurrence of JOHD cases, who severely progress towards mental and physical disability with atypical clinical manifestations compared to classical HD, are responsible of general lack of knowledge about this variant. We obtained a fully reprogrammed iPS cell line from fibroblasts of a JOHD patient carrying 65 CAG repeats and age at onset at age 15. At the biopsy time, the patient showed an advanced stage after 10 years of disease.http://www.sciencedirect.com/science/article/pii/S1873506118301090 |
| spellingShingle | Giovannina Rotundo Eris Bidollari Daniela Ferrari Iolanda Spasari Laura Bernardini Federica Consoli Alessandro De Luca Iolanda Santimone Giuseppe Lamorte Simone Migliore Ferdinando Squitieri Angelo Luigi Vescovi Jessica Rosati Generation of the induced pluripotent stem cell line CSSi006-A (3681) from a patient affected by advanced-stage Juvenile Onset Huntington's Disease Stem Cell Research |
| title | Generation of the induced pluripotent stem cell line CSSi006-A (3681) from a patient affected by advanced-stage Juvenile Onset Huntington's Disease |
| title_full | Generation of the induced pluripotent stem cell line CSSi006-A (3681) from a patient affected by advanced-stage Juvenile Onset Huntington's Disease |
| title_fullStr | Generation of the induced pluripotent stem cell line CSSi006-A (3681) from a patient affected by advanced-stage Juvenile Onset Huntington's Disease |
| title_full_unstemmed | Generation of the induced pluripotent stem cell line CSSi006-A (3681) from a patient affected by advanced-stage Juvenile Onset Huntington's Disease |
| title_short | Generation of the induced pluripotent stem cell line CSSi006-A (3681) from a patient affected by advanced-stage Juvenile Onset Huntington's Disease |
| title_sort | generation of the induced pluripotent stem cell line cssi006 a 3681 from a patient affected by advanced stage juvenile onset huntington s disease |
| url | http://www.sciencedirect.com/science/article/pii/S1873506118301090 |
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