Production of CSSi013-A (9360) iPSC line from an asymptomatic subject carrying an heterozygous mutation in TDP-43 protein
- Autori: D'Anzi, A.; Perciballi, E.; Ruotolo, G.; Ferrari, D.; Notaro, A.; Lombardi, I.; Gelati, M.; Frezza, K.; Bernardini, L.; Torrente, I.; De Luca, A.; La Bella, V.; Luigi Vescovi, A.; Rosati, J.
- Anno di pubblicazione: 2022
- Tipologia: Articolo in rivista
- OA Link: http://hdl.handle.net/10447/578703
Abstract
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.