Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP protein
Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative condition with phenotypic and genetic heterogeneity. It is characterized by the selective vulnerability and the progressive loss of the neural population. Here, an induced pluripotent stem cell (iPSC) line was generated from derma...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2021-05-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506121002026 |
| _version_ | 1818833173174288384 |
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| author | Angela D'Anzi Filomena Altieri Elisa Perciballi Daniela Ferrari Barbara Torres Laura Bernardini Serena Lattante Mario Sabatelli Angelo Luigi Vescovi Jessica Rosati |
| author_facet | Angela D'Anzi Filomena Altieri Elisa Perciballi Daniela Ferrari Barbara Torres Laura Bernardini Serena Lattante Mario Sabatelli Angelo Luigi Vescovi Jessica Rosati |
| author_sort | Angela D'Anzi |
| collection | DOAJ |
| description | Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative condition with phenotypic and genetic heterogeneity. It is characterized by the selective vulnerability and the progressive loss of the neural population. Here, an induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of an individual carrying the p.G376D mutation in the TDP-43 protein. Fibroblasts were reprogrammed using non-integrating episomal plasmids. There were no karyotype abnormalities, and iPSCs successfully differentiated into all three germ layers. This cell line may prove useful in the study of the pathogenic mechanisms that underpin ALS syndrome. |
| first_indexed | 2024-12-19T02:14:43Z |
| format | Article |
| id | doaj.art-98b0bf5db00147a68d97e9c645d39984 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-12-19T02:14:43Z |
| publishDate | 2021-05-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-98b0bf5db00147a68d97e9c645d399842022-12-21T20:40:27ZengElsevierStem Cell Research1873-50612021-05-0153102356Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP proteinAngela D'Anzi0Filomena Altieri1Elisa Perciballi2Daniela Ferrari3Barbara Torres4Laura Bernardini5Serena Lattante6Mario Sabatelli7Angelo Luigi Vescovi8Jessica Rosati9Cellular Reprogramming Unit, Fondazione I.R.C.C.S. Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, ItalyCellular Reprogramming Unit, Fondazione I.R.C.C.S. Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, 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, 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 Policlinico Universitario “A. Gemelli” IRCCS, Section of Genomic Medicine, Department of Health Sciences and Public Health, Università Cattolica del Sacro Cuore, Largo Agostino Gemelli 8, Rome, ItalyNeurology Unit, NeMO Clinical Center, Fondazione Policlinico Universitario “A. Gemelli” IRCCS, Section of Neurology, Department of Neurosciences, Università Cattolica del Sacro Cuore, Largo Agostino Gemelli 8, Rome, 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: Fondazione I.R.C.C.S. Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy (A.L. Vescovi); Cellular Reprogramming Unit, Fondazione I.R.C.C.S. Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy (J. Rosati).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: Fondazione I.R.C.C.S. Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy (A.L. Vescovi); Cellular Reprogramming Unit, Fondazione I.R.C.C.S. Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy (J. Rosati).Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative condition with phenotypic and genetic heterogeneity. It is characterized by the selective vulnerability and the progressive loss of the neural population. Here, an induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of an individual carrying the p.G376D mutation in the TDP-43 protein. Fibroblasts were reprogrammed using non-integrating episomal plasmids. There were no karyotype abnormalities, and iPSCs successfully differentiated into all three germ layers. This cell line may prove useful in the study of the pathogenic mechanisms that underpin ALS syndrome.http://www.sciencedirect.com/science/article/pii/S1873506121002026 |
| spellingShingle | Angela D'Anzi Filomena Altieri Elisa Perciballi Daniela Ferrari Barbara Torres Laura Bernardini Serena Lattante Mario Sabatelli Angelo Luigi Vescovi Jessica Rosati Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP protein Stem Cell Research |
| title | Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP protein |
| title_full | Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP protein |
| title_fullStr | Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP protein |
| title_full_unstemmed | Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP protein |
| title_short | Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP protein |
| title_sort | generation of an induced pluripotent stem cell line css012 a 7672 carrying the p g376d heterozygous mutation in the tardbp protein |
| url | http://www.sciencedirect.com/science/article/pii/S1873506121002026 |
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