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.

D'Anzi, A., Perciballi, E., Ruotolo, G., Ferrari, D., Notaro, A., Lombardi, I., et al. (2022). Production of CSSi013-A (9360) iPSC line from an asymptomatic subject carrying an heterozygous mutation in TDP-43 protein. STEM CELL RESEARCH, 63 [10.1016/j.scr.2022.102835].

Production of CSSi013-A (9360) iPSC line from an asymptomatic subject carrying an heterozygous mutation in TDP-43 protein

Perciballi, Elisa;Ruotolo, Giorgia;Ferrari, Daniela;Lombardi, Ivan;Luigi Vescovi, Angelo;Rosati, Jessica
2022

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.
Articolo in rivista - Articolo scientifico
DNA-Binding Proteins; Heterozygote; Humans; Mutation; Amyotrophic Lateral Sclerosis; Induced Pluripotent Stem Cells
English
D'Anzi, A., Perciballi, E., Ruotolo, G., Ferrari, D., Notaro, A., Lombardi, I., et al. (2022). Production of CSSi013-A (9360) iPSC line from an asymptomatic subject carrying an heterozygous mutation in TDP-43 protein. STEM CELL RESEARCH, 63 [10.1016/j.scr.2022.102835].
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
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/391454
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