Generation of an induced pluripotent stem cell line (UCSCi001-A) from a patient with early-onset amyotrophic lateral sclerosis carrying a FUS variant


Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease affecting upper and lower motor neurons. We generated patient-derived-induced Pluripotent Stem Cells (iPSCs), from an ALS patient affected by an early-onset and aggressive form of the disease, carrying a missense pathogenic variant in FUS gene. We reprogrammed somatic cells using an established Sendai virus protocol and we obtained clones of iPSC. We confirmed their stemness and further generated embryoid bodies, showing their potential of differentiating in all three germ layers. This iPSC line, carrying a pathogenic FUS variant, is a valuable tool to deeply investigate pathogenic mechanisms leading to ALS. Copyright © 2021. Published by Elsevier B.V.

Authors Martello F, Lattante S, Doronzio PN, Conte A, Bisogni G, Orteschi D, Pirozzi F, Sabatelli M, Zollino M, Marangi G
Journal Stem cell research
Publication Date 2021 Aug;55:102461
PubMed 34303285
DOI 10.1016/j.scr.2021.102461

Research Projects

Cell Lines