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

Autor:	Medina DX; Department of Neurobiology, Gregory W Fulton ALS Research Center, Barrow Neurological Institute, 350 W Thomas Road, Phoenix, AZ 85013, USA., Boehringer A; Department of Neurobiology, Gregory W Fulton ALS Research Center, Barrow Neurological Institute, 350 W Thomas Road, Phoenix, AZ 85013, USA., Dominick M; Department of Neurobiology, Gregory W Fulton ALS Research Center, Barrow Neurological Institute, 350 W Thomas Road, Phoenix, AZ 85013, USA., Lorenzini I; Department of Neurobiology, Gregory W Fulton ALS Research Center, Barrow Neurological Institute, 350 W Thomas Road, Phoenix, AZ 85013, USA., Saez-Atienzar S; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, NIA, NIH, 35 Convent Drive, Room 1A-213, Bethesda, MD 20892, USA., Pioro EP; Section of ALS & Related Disorders, Department of Neurology, S90, Neurological Institute, Cleveland Clinic, 9500 Euclid Ave, Cleveland, OH 44195, USA., Sattler R; Department of Neurobiology, Gregory W Fulton ALS Research Center, Barrow Neurological Institute, 350 W Thomas Road, Phoenix, AZ 85013, USA., Traynor B; 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., Bowser R; Department of Neurobiology, Gregory W Fulton ALS Research Center, Barrow Neurological Institute, 350 W Thomas Road, Phoenix, AZ 85013, USA.
Jazyk:	angličtina
Zdroj:	Stem cell research [Stem Cell Res] 2020 Dec 24; Vol. 50, pp. 102141. Date of Electronic Publication: 2020 Dec 24.
DOI:	10.1016/j.scr.2020.102141
Abstrakt:	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.)
Databáze:	MEDLINE
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