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

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

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

2 Citazioni (Scopus)

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]
Lingua originaleEnglish
pagine (da-a)146-150
Numero di pagine5
RivistaStem Cell Research
Volume33
DOI
Stato di pubblicazionePubblicato - 2018

Keywords

  • Cell Biology
  • Developmental Biology

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