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Stem Cell Res. 2018 Dec;33:146-150. doi: 10.1016/j.scr.2018.10.011. Epub 2018 Oct 6.

Generation and characterization of a human iPSC line from an ALS patient carrying the Q66K-MATR3 mutation.

Author information

1
Centre for Integrative Biology, CIBIO, University of Trento, Via Sommarive 9, 38122 Trento, Italy.
2
Institute of Genomic Medicine, Catholic University School of Medicine, Largo F. Vito 1, 00168 Rome, Italy.
3
Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza Hospital, I-71013 San Giovanni Rotondo (FG), Italy.
4
Clinic Center Nemo, Largo A. Gemelli 8, 00168 Rome, Italy; Institute of Neurology, Catholic University of Sacro Cuore, Largo A. Gemelli 8, 00168 Rome, Italy; Department of Geriatrics, Neurosciences and Orthopedics, Universitary Policlinic A.Gemelli Foundation, Largo A. Gemelli 8, 00168 Rome, Italy.
5
Centre for Integrative Biology, CIBIO, University of Trento, Via Sommarive 9, 38122 Trento, Italy. Electronic address: alessandro.provenzani@unitn.it.

Abstract

Fibroblasts isolated from an Amyotrophic Lateral Sclerosis (ALS)-patient carrying a mutation in Matrin-3 (p.Q66K -MATR3) gene were reprogrammed to the pluripotency stage by using non-integrating episomal plasmids. We generated the Q66K#44DRM induced pluripotent stem cell (iPSC) line that showed regular karyotype, expressed pluripotency-associated markers and were able to properly differentiate into the three germ layers. The heterozygous missense mutation in the MATR3 gene (p.Q66K), which is associated to ALS disease, was present in the generated iPSC line. Resource table.

PMID:
30366341
DOI:
10.1016/j.scr.2018.10.011
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