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

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 tableUnlabelled TableUnique stem cell line identifierCIBIOi001-AAlternative name(s) of stem cell lineQ66K#44DRMInstitutionCIBIO, University of Trento, ItalyContact information of distributorAlessandro Provenzani alessandro.provenzani@unitn.itType of cell lineiPSCs (induced pluripotent stem cells)OriginHumanAdditional origin infoAge:51Sex: MaleEthnicity if known: European, Italian.Cell sourcePatient derived fibroblastsClonalityClonal, clone number 44Method of reprogrammingEpisomal iPSC Reprogramming PlasmidGenetic modificationNOType of modificationSpontaneous mutation (missense)Associated diseaseAmyotrophic Lateral Sclerosis (ALS)Gene/locusMATR3/5q31.2Method of modificationN/AName of transgene or resistanceN/AInducible/constitutive systemN/ADate archived/stock date16/01/2018Cell line repository/bankN/AEthical approvalPatient signed informed consent, number of protocol P/740/CE/2012 released by the ethical committee of the Catholic University School of Medicine