Production of CSSi013-A (9360) iPSC line from an asymptomatic subject carrying an heterozygous mutation in TDP-43 protein
Amyotrophic Lateral Sclerosis (ALS) is a fatal disease affecting both upper and lower motoneurons. The transactive response DNA binding protein (TARDBP) gene, encoding for TDP-43, is one of the most commonly mutated gene associated with familial cases of ALS (10%). We generated a human induced pluri...
| Main Authors: | , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2022-08-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506122001842 |
| _version_ | 1828518094306279424 |
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| author | Angela D'Anzi Elisa Perciballi Giorgia Ruotolo Daniela Ferrari Antonietta Notaro Ivan Lombardi Maurizio Gelati Katia Frezza Laura Bernardini Isabella Torrente Alessandro De Luca Vincenzo La Bella Angelo Luigi Vescovi Jessica Rosati |
| author_facet | Angela D'Anzi Elisa Perciballi Giorgia Ruotolo Daniela Ferrari Antonietta Notaro Ivan Lombardi Maurizio Gelati Katia Frezza Laura Bernardini Isabella Torrente Alessandro De Luca Vincenzo La Bella Angelo Luigi Vescovi Jessica Rosati |
| author_sort | Angela D'Anzi |
| collection | DOAJ |
| description | Amyotrophic Lateral Sclerosis (ALS) is a fatal disease affecting both upper and lower motoneurons. The transactive response DNA binding protein (TARDBP) gene, encoding for TDP-43, is one of the most commonly mutated gene associated with familial cases of ALS (10%). We generated a human induced pluripotent stem cell (hiPSC) line from the fibroblasts of an asymptomatic subject carrying the TARDBP p.G376D mutation. This mutation is very rare and was described in a large Apulian family, in which all ALS affected members are carriers of the mutation. The subject here described is the first identified asymptomatic carrier of the mutation. |
| first_indexed | 2024-12-11T18:50:27Z |
| format | Article |
| id | doaj.art-71dbdaeeab21417695fd1e91315f940f |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-12-11T18:50:27Z |
| publishDate | 2022-08-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-71dbdaeeab21417695fd1e91315f940f2022-12-22T00:54:18ZengElsevierStem Cell Research1873-50612022-08-0163102835Production of CSSi013-A (9360) iPSC line from an asymptomatic subject carrying an heterozygous mutation in TDP-43 proteinAngela D'Anzi0Elisa Perciballi1Giorgia Ruotolo2Daniela Ferrari3Antonietta Notaro4Ivan Lombardi5Maurizio Gelati6Katia Frezza7Laura Bernardini8Isabella Torrente9Alessandro De Luca10Vincenzo La Bella11Angelo Luigi Vescovi12Jessica Rosati13Cellular Reprogramming Unit, Fondazione I.R.C.C.S. Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, ItalyBiotechnology and Bioscience Department, Bicocca University, Piazza della Scienza 2, 20126 Milan, ItalyCellular Reprogramming Unit, Fondazione I.R.C.C.S. Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, ItalyBiotechnology and Bioscience Department, Bicocca University, Piazza della Scienza 2, 20126 Milan, ItalyDepartment of Biological, Chemical and Pharmaceutical Sciences and Technologies (STEBICEF), University of Palermo, Viale delle Scienze, 90128 Palermo, ItalyBiotechnology and Bioscience Department, Bicocca University, Piazza della Scienza 2, 20126 Milan, ItalyUPTA Unit, Fondazione IRCCS Casa Sollievo della Sofferenza - Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, ItalyMedical Genetics Unit, Fondazione I.R.C.C.S. Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, ItalyMedical Genetics Unit, Fondazione I.R.C.C.S. Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, ItalyMedical Genetics Unit, Fondazione I.R.C.C.S. Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, ItalyMedical Genetics Unit, Fondazione I.R.C.C.S. Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, ItalyDepartment of Biomedicine, Neuroscience and Advanced Diagnostics (BiND), University of Palermo, Via del Vespro 129, 90127 Palermo, ItalyCellular Reprogramming Unit, Fondazione I.R.C.C.S. Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy; Biotechnology and Bioscience Department, Bicocca University, Piazza della Scienza 2, 20126 Milan, Italy; Corresponding authors at: Cellular Reprogramming Unit, Fondazione I.R.C.C.S. Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy.Cellular Reprogramming Unit, Fondazione I.R.C.C.S. Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy; Corresponding authors at: Cellular Reprogramming Unit, Fondazione I.R.C.C.S. Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy.Amyotrophic Lateral Sclerosis (ALS) is a fatal disease affecting both upper and lower motoneurons. The transactive response DNA binding protein (TARDBP) gene, encoding for TDP-43, is one of the most commonly mutated gene associated with familial cases of ALS (10%). We generated a human induced pluripotent stem cell (hiPSC) line from the fibroblasts of an asymptomatic subject carrying the TARDBP p.G376D mutation. This mutation is very rare and was described in a large Apulian family, in which all ALS affected members are carriers of the mutation. The subject here described is the first identified asymptomatic carrier of the mutation.http://www.sciencedirect.com/science/article/pii/S1873506122001842 |
| spellingShingle | Angela D'Anzi Elisa Perciballi Giorgia Ruotolo Daniela Ferrari Antonietta Notaro Ivan Lombardi Maurizio Gelati Katia Frezza Laura Bernardini Isabella Torrente Alessandro De Luca Vincenzo La Bella Angelo Luigi Vescovi Jessica Rosati Production of CSSi013-A (9360) iPSC line from an asymptomatic subject carrying an heterozygous mutation in TDP-43 protein Stem Cell Research |
| title | Production of CSSi013-A (9360) iPSC line from an asymptomatic subject carrying an heterozygous mutation in TDP-43 protein |
| title_full | Production of CSSi013-A (9360) iPSC line from an asymptomatic subject carrying an heterozygous mutation in TDP-43 protein |
| title_fullStr | Production of CSSi013-A (9360) iPSC line from an asymptomatic subject carrying an heterozygous mutation in TDP-43 protein |
| title_full_unstemmed | Production of CSSi013-A (9360) iPSC line from an asymptomatic subject carrying an heterozygous mutation in TDP-43 protein |
| title_short | Production of CSSi013-A (9360) iPSC line from an asymptomatic subject carrying an heterozygous mutation in TDP-43 protein |
| title_sort | production of cssi013 a 9360 ipsc line from an asymptomatic subject carrying an heterozygous mutation in tdp 43 protein |
| url | http://www.sciencedirect.com/science/article/pii/S1873506122001842 |
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