Generation of five induced pluripotent stem cells lines from four members of the same family carrying a C9orf72 repeat expansion and one wild-type member
The most common genetic cause of Amyotrophic Lateral Sclerosis (ALS) is the expansion of a G4C2 hexanucleotide repeat in the C9orf72 gene. The size of the repeat expansion is highly variable and a cut-off of 30 repeats has been suggested as the lower pathological limit. Repeat size variability has b...
| Main Authors: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2023-02-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506122003476 |
| _version_ | 1797956261329764352 |
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| author | Chiara Lattuada Serena Santangelo Silvia Peverelli Philip McGoldrick Ekaterina Rogaeva Lorne Zinman Georg Haase Vincent Géli Vincenzo Silani Janice Robertson Antonia Ratti Patrizia Bossolasco |
| author_facet | Chiara Lattuada Serena Santangelo Silvia Peverelli Philip McGoldrick Ekaterina Rogaeva Lorne Zinman Georg Haase Vincent Géli Vincenzo Silani Janice Robertson Antonia Ratti Patrizia Bossolasco |
| author_sort | Chiara Lattuada |
| collection | DOAJ |
| description | The most common genetic cause of Amyotrophic Lateral Sclerosis (ALS) is the expansion of a G4C2 hexanucleotide repeat in the C9orf72 gene. The size of the repeat expansion is highly variable and a cut-off of 30 repeats has been suggested as the lower pathological limit. Repeat size variability has been observed intergenerationally and intraindividually in tissues from different organs and within the same tissue, suggesting instability of the pathological repeat expansion. In order to study this genomic instability, we established iPSCs from five members of the same family of which four carried a C9orf72 repeat expansion and one was wild-type. |
| first_indexed | 2024-04-10T23:46:15Z |
| format | Article |
| id | doaj.art-bcc29c6b77764dd683e3306ceb13c7d8 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-04-10T23:46:15Z |
| publishDate | 2023-02-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-bcc29c6b77764dd683e3306ceb13c7d82023-01-11T04:28:30ZengElsevierStem Cell Research1873-50612023-02-0166102998Generation of five induced pluripotent stem cells lines from four members of the same family carrying a C9orf72 repeat expansion and one wild-type memberChiara Lattuada0Serena Santangelo1Silvia Peverelli2Philip McGoldrick3Ekaterina Rogaeva4Lorne Zinman5Georg Haase6Vincent Géli7Vincenzo Silani8Janice Robertson9Antonia Ratti10Patrizia Bossolasco11Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, ItalyDepartment of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy; Department of Medical Biotechnology and Translational Medicine, Università degli Studi di Milano, Milan, ItalyDepartment of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, ItalyTanz Centre for Research in Neurodegenerative Diseases, University of Toronto, CanadaTanz Centre for Research in Neurodegenerative Diseases, University of Toronto, CanadaSunnybrook Health Sciences Centre, Toronto, CanadaMPATHY Laboratory, Institute of Systems Neuroscience, U1106 INSERM & Aix-Marseille University, Marseille, FranceMarseille Cancer Research Centre (CRCM), Inserm U1068, CNRS UMR7258, Institut Paoli-Calmettes, Aix-Marseille University, Marseille, FranceDepartment of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy; “Dino Ferrari” Center, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, ItalyTanz Centre for Research in Neurodegenerative Diseases, University of Toronto, CanadaDepartment of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy; Department of Medical Biotechnology and Translational Medicine, Università degli Studi di Milano, Milan, ItalyDepartment of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy; Corresponding author.The most common genetic cause of Amyotrophic Lateral Sclerosis (ALS) is the expansion of a G4C2 hexanucleotide repeat in the C9orf72 gene. The size of the repeat expansion is highly variable and a cut-off of 30 repeats has been suggested as the lower pathological limit. Repeat size variability has been observed intergenerationally and intraindividually in tissues from different organs and within the same tissue, suggesting instability of the pathological repeat expansion. In order to study this genomic instability, we established iPSCs from five members of the same family of which four carried a C9orf72 repeat expansion and one was wild-type.http://www.sciencedirect.com/science/article/pii/S1873506122003476 |
| spellingShingle | Chiara Lattuada Serena Santangelo Silvia Peverelli Philip McGoldrick Ekaterina Rogaeva Lorne Zinman Georg Haase Vincent Géli Vincenzo Silani Janice Robertson Antonia Ratti Patrizia Bossolasco Generation of five induced pluripotent stem cells lines from four members of the same family carrying a C9orf72 repeat expansion and one wild-type member Stem Cell Research |
| title | Generation of five induced pluripotent stem cells lines from four members of the same family carrying a C9orf72 repeat expansion and one wild-type member |
| title_full | Generation of five induced pluripotent stem cells lines from four members of the same family carrying a C9orf72 repeat expansion and one wild-type member |
| title_fullStr | Generation of five induced pluripotent stem cells lines from four members of the same family carrying a C9orf72 repeat expansion and one wild-type member |
| title_full_unstemmed | Generation of five induced pluripotent stem cells lines from four members of the same family carrying a C9orf72 repeat expansion and one wild-type member |
| title_short | Generation of five induced pluripotent stem cells lines from four members of the same family carrying a C9orf72 repeat expansion and one wild-type member |
| title_sort | generation of five induced pluripotent stem cells lines from four members of the same family carrying a c9orf72 repeat expansion and one wild type member |
| url | http://www.sciencedirect.com/science/article/pii/S1873506122003476 |
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