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

Authors

David X. Medina, Barrow Neurological InstituteFollow
Ashley Boehringer, Barrow Neurological InstituteFollow
Marissa Dominick, Barrow Neurological Institute
Ileana Lorenzini, Barrow Neurological Institute
Sara Saez-Atienzar, National Institute on Aging (NIA)
Erik P. Pioro, Cleveland Clinic Foundation
Rita Sattler, Barrow Neurological InstituteFollow
Bryan Traynor, National Institute on Aging (NIA)
Robert Bowser, Barrow Neurological InstituteFollow

Document Type

Article

Abstract

© 2020 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.

Publication Date

1-1-2021

Publication Title

Stem Cell Research

ISSN

18735061

E-ISSN

18767753

Volume

50

Digital Object Identifier (DOI)

10.1016/j.scr.2020.102141

Recommended Citation

Medina, David X.; Boehringer, Ashley; Dominick, Marissa; Lorenzini, Ileana; Saez-Atienzar, Sara; Pioro, Erik P.; Sattler, Rita; Traynor, Bryan; and Bowser, Robert, "Generation of two induced pluripotent stem cell (iPSC) lines from an ALS patient with simultaneous mutations in KIF5A and MATR3 genes" (2021). Translational Neuroscience. 533.
https://scholar.barrowneuro.org/neurobiology/533