Among the known causative genes of familial ALS, SOD1 mutation is one of the most common. It encodes for the ubiquitous detoxifying copper/zinc binding SOD1 enzyme, whose mutations selectively cause motor neuron death, although the mechanisms are not as yet clear. What is known is that mutant-mediated toxicity is not caused by loss of its detoxifying activity but by a gain-of-function. In order to better understand the pathogenic mechanisms of SOD1 mutation, a human induced pluripotent stem cell (hiPSC) line was generated from the somatic cells of a female patient carrying a missense variation in SOD1 (L145F).

D'Anzi, A., Altieri, F., Perciballi, E., Ferrari, D., Bernardini, L., Goldoni, M., et al. (2020). Generation of an induced pluripotent stem cell line, CSSi011-A (6534), from an Amyotrophic lateral sclerosis patient with heterozygous L145F mutation in SOD1 gene. STEM CELL RESEARCH, 47(August 2020) [10.1016/j.scr.2020.101924].

Generation of an induced pluripotent stem cell line, CSSi011-A (6534), from an Amyotrophic lateral sclerosis patient with heterozygous L145F mutation in SOD1 gene

Perciballi E.;Ferrari D.;Vescovi A. L.
;
2020

Abstract

Among the known causative genes of familial ALS, SOD1 mutation is one of the most common. It encodes for the ubiquitous detoxifying copper/zinc binding SOD1 enzyme, whose mutations selectively cause motor neuron death, although the mechanisms are not as yet clear. What is known is that mutant-mediated toxicity is not caused by loss of its detoxifying activity but by a gain-of-function. In order to better understand the pathogenic mechanisms of SOD1 mutation, a human induced pluripotent stem cell (hiPSC) line was generated from the somatic cells of a female patient carrying a missense variation in SOD1 (L145F).
No
Articolo in rivista - Articolo scientifico
Scientifica
CSSi011-A, ALS, human induced pluripotent stem cell
English
D'Anzi, A., Altieri, F., Perciballi, E., Ferrari, D., Bernardini, L., Goldoni, M., et al. (2020). Generation of an induced pluripotent stem cell line, CSSi011-A (6534), from an Amyotrophic lateral sclerosis patient with heterozygous L145F mutation in SOD1 gene. STEM CELL RESEARCH, 47(August 2020) [10.1016/j.scr.2020.101924].
D'Anzi, A; Altieri, F; Perciballi, E; Ferrari, D; Bernardini, L; Goldoni, M; Mazzini, L; De Marchi, F; Di Pierro, A; D'Alfonso, S; Gelati, M; Vescovi, A; Rosati, J
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10281/298768
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