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

Daniele Pollini, Rosa Loffredo, Marina Cardano, Luciano Conti, Serena Lattante, Angelantonio Notarangelo, Mario Sabatelli, Alessandro Provenzani

Research output: Contribution to journalArticlepeer-review

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 [Table presented]

Original languageEnglish
Pages (from-to)146-150
Number of pages5
JournalStem Cell Research
Volume33
DOIs
Publication statusPublished - Dec 1 2018

ASJC Scopus subject areas

  • Developmental Biology
  • Cell Biology

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