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

David X Medina; Ashley Boehringer; Marissa Dominick; Ileana Lorenzini; Sara Saez-Atienzar; Erik P Pioro; Rita Sattler; Bryan Traynor; Robert Bowser

doi:10.1016/j.scr.2020.102141

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

Stem Cell Res. 2020 Dec 24:50:102141. doi: 10.1016/j.scr.2020.102141. Online ahead of print.

Authors

David X Medina¹, Ashley Boehringer¹, Marissa Dominick¹, Ileana Lorenzini¹, Sara Saez-Atienzar², Erik P Pioro³, Rita Sattler¹, Bryan Traynor⁴, Robert Bowser¹

Affiliations

¹ Department of Neurobiology, Gregory W Fulton ALS Research Center, Barrow Neurological Institute, 350 W Thomas Road, Phoenix, AZ 85013, USA.
² Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, NIA, NIH, 35 Convent Drive, Room 1A-213, Bethesda, MD 20892, USA.
³ Section of ALS & Related Disorders, Department of Neurology, S90, Neurological Institute, Cleveland Clinic, 9500 Euclid Ave, Cleveland, OH 44195, USA.
⁴ Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, NIA, NIH, 35 Convent Drive, Room 1A-213, Bethesda, MD 20892, USA; Department of Neurology, Johns Hopkins University, Baltimore, MD 21287, USA.

Abstract

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.

Abstract

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