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 journalArticle

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 languageEnglish (US)
Article number101924
JournalStem Cell Research
Volume47
DOIs
StatePublished - Aug 2020

ASJC Scopus subject areas

  • Developmental Biology
  • Cell Biology

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