Lymphoblastoids cell lines - Derived iPSC line from a 26-year-old myotonic dystrophy type 1 patient carrying (CTG)200 expansion in the DMPK gene: CHUQi001-A

Stem Cell Res. 2018 Jan:26:103-106. doi: 10.1016/j.scr.2017.12.010. Epub 2017 Dec 16.

Abstract

Human immortalized Epstein-Barr virus (EBV) lymphoblastoids cells line (LCLs) from a 26-year- old male affected by an adult form of myotonic dystrophy type 1 (DM1) disease and carrying 200 CTG repeats mutation in the blood was used to generate induced pluripotent stem cells (iPSCs) using the Sendai virus expressing KLF4, OCT4, SOX2 and C-MYC. The resulting iPSCs were EBV free, expressed the pluripotency markers, could be differentiated into the three germ layers in vitro, had a normal karyotype, and retained the genetic DM1 mutation. This iPSC line could be useful for the investigation of DM1 mechanisms.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Biomarkers / metabolism
  • Cell Differentiation*
  • Cell Line
  • Cells, Cultured
  • Cellular Reprogramming*
  • Humans
  • Induced Pluripotent Stem Cells / metabolism
  • Induced Pluripotent Stem Cells / pathology*
  • Kruppel-Like Factor 4
  • Lymphocytes / metabolism
  • Lymphocytes / pathology*
  • Male
  • Myotonic Dystrophy / metabolism
  • Myotonic Dystrophy / pathology*
  • Myotonin-Protein Kinase / genetics*
  • Trinucleotide Repeat Expansion*

Substances

  • Biomarkers
  • DMPK protein, human
  • KLF4 protein, human
  • Kruppel-Like Factor 4
  • Myotonin-Protein Kinase