| Autor: |
G. Ruotolo, A. D'Anzi, A. Casamassa, M. Mazzoni, D. Ferrari, I. Lombardi, R.M. Carletti, C. D'Asdia, I. Torrente, K. Frezza, S. Lattante, M. Sabatelli, M. Pennuto, A.L. Vescovi, J. Rosati |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
|
| Zdroj: |
Stem Cell Research, Vol 77, Iss , Pp 103412- (2024) |
| Druh dokumentu: |
article |
| ISSN: |
1873-5061 |
| DOI: |
10.1016/j.scr.2024.103412 |
| Popis: |
Genetic expansions of the hexanucleotide repeats (GGGGCC) in the C9orf72 gene appear in approximately 40% of patients with familial ALS and 7% of patients with sporadic ALS in the European population, making this mutation one of the most prevalent genetic mutations in ALS. Here, we generated a human induced pluripotent stem cell (hiPSC) line from the dermal fibroblasts of a patient carrying a 56-repeat expansion in an ALS disease-causing allele of C9orf72. These iPSCs showed stable amplification in vitro with normal karyotype and high expression of pluripotent markers and differentiated spontaneously in vivo into three germ layers. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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