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

Research output: Contribution to journal › Article › peer-review

3 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
Journal	Stem Cell Research
Volume	47
DOIs	https://doi.org/10.1016/j.scr.2020.101924
State	Published - Aug 2020

ASJC Scopus subject areas

Developmental Biology
Cell Biology

Access to Document

10.1016/j.scr.2020.101924

Cite this

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]. 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. https://doi.org/10.1016/j.scr.2020.101924

@article{af92ae474a5c45d692ab932f5d18da64,

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).",

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

note = "Funding Information: This work was supported by grants from the Italian Ministry of Health: Ricerca Corrente 2019-2020 to JR, from the Italian Ministry of Research and University, grant N. 201534HNXC to SD, from Universit{\`a} del Piemonte Orientale, AGING Project for Department of Excellence at the Department of Translational Medicine (DIMET) to LM and SD. Publisher Copyright: {\textcopyright} 2020 The Authors",

year = "2020",

month = aug,

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

language = "English (US)",

volume = "47",

journal = "Stem Cell Research",

issn = "1873-5061",

publisher = "Elsevier",

}

TY - JOUR

T1 - Generation of an induced pluripotent stem cell line, CSSi011-A (6534), from an Amyotrophic lateral sclerosis patient with heterozygous L145F mutation in SOD1 gene

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

N1 - Funding Information: This work was supported by grants from the Italian Ministry of Health: Ricerca Corrente 2019-2020 to JR, from the Italian Ministry of Research and University, grant N. 201534HNXC to SD, from Università del Piemonte Orientale, AGING Project for Department of Excellence at the Department of Translational Medicine (DIMET) to LM and SD. Publisher Copyright: © 2020 The Authors

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).

UR - http://www.scopus.com/inward/record.url?scp=85088837831&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85088837831&partnerID=8YFLogxK

U2 - 10.1016/j.scr.2020.101924

DO - 10.1016/j.scr.2020.101924

M3 - Article

C2 - 32739880

AN - SCOPUS:85088837831

VL - 47

JO - Stem Cell Research

JF - Stem Cell Research

SN - 1873-5061

M1 - 101924

ER -

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

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this