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


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. Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Martineau L, Racine V, Benichou SA, Puymirat J
Journal Stem cell research
Publication Date 2018 Jan;26:103-106
PubMed 29274549
DOI 10.1016/j.scr.2017.12.010

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