Generation of two induced pluripotent stem cell (iPSC) lines from an ALS patient with simultaneous mutations in KIF5A and MATR3 genes


Fibroblasts from an amyotrophic lateral sclerosis patient with simultaneous mutations in the MATR3 gene and KIF5A gene were isolated and reprogrammed into induced pluripotent stem cells via a non-integrating Sendai viral vector. The generated iPSC clones demonstrated normal karyotype, expression of pluripotency markers, and the capacity to differentiate into three germ layers. The unique presence of two simultaneous mutations in ALS-associated genes represent a novel tool for the study of ALS disease mechanisms. Copyright © 2020. Published by Elsevier B.V.

Authors Medina DX, Boehringer A, Dominick M, Lorenzini I, Saez-Atienzar S, Pioro EP, Sattler R, Traynor B, Bowser R
Journal Stem cell research
Publication Date 2020 Dec 24;50:102141
PubMed 33388707
DOI 10.1016/j.scr.2020.102141

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