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

Angela D'Anzi; Filomena Altieri; Elisa Perciballi; Daniela Ferrari; Laura Bernardini; Marina Goldoni; Letizia Mazzini; Fabiola De Marchi; Alice Di Pierro; Sandra D'Alfonso; Maurizio Gelati; Angelo Luigi Vescovi; Jessica Rosati

doi: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

Angela D'Anzi, Filomena Altieri, Elisa Perciballi, Daniela Ferrari, Laura Bernardini, Marina Goldoni, Letizia Mazzini, Fabiola De Marchi, Alice Di Pierro, Sandra D'Alfonso, Maurizio Gelati, Angelo Luigi Vescovi, Jessica Rosati

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5 Scopus citations

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).

Original language	English (US)
Article number	101924
Pages (from-to)	101924
Journal	Stem Cell Research
Volume	47
Early online date	Jul 25 2020
DOIs	https://doi.org/10.1016/j.scr.2020.101924
State	Published - Aug 2020

ASJC Scopus subject areas

Developmental Biology
Cell Biology

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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. L., & Rosati, J. (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, 101924. Article 101924. https://doi.org/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, AL & Rosati, J 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, vol. 47, 101924, pp. 101924. https://doi.org/10.1016/j.scr.2020.101924

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

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).",

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month = aug,

doi = "10.1016/j.scr.2020.101924",

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AU - D'Anzi, Angela

AU - Altieri, Filomena

AU - Perciballi, Elisa

AU - Ferrari, Daniela

AU - Bernardini, Laura

AU - Goldoni, Marina

AU - Mazzini, Letizia

AU - De Marchi, Fabiola

AU - Di Pierro, Alice

AU - D'Alfonso, Sandra

AU - Gelati, Maurizio

AU - Vescovi, Angelo Luigi

AU - Rosati, Jessica

PY - 2020/8

Y1 - 2020/8

N2 - 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).

AB - 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).

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

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