Generation of an induced pluripotent stem cell line, CSSi011-A (6534), from an Amyotrophic lateral sclerosis patient with heterozygous L145F mutation in SOD1 gene
Summary
Among the known causative genes of familial ALS, SOD1mutation 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). Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | 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 |
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| Journal | Stem cell research |
| Publication Date | 2020 Jul 25;47:101924 |
| PubMed | 32739880 |
| DOI | 10.1016/j.scr.2020.101924 |