Generation of a human induced pluripotent stem cell line (iPSC) from peripheral blood mononuclear cells of a patient with a myasthenic syndrome due to mutation in COLQ

Stem Cell Res. 2020 Dec:49:102106. doi: 10.1016/j.scr.2020.102106. Epub 2020 Dec 2.


Congenital myasthenic syndromes (CMS) are a class of inherited disorders affecting the neuromuscular junction, a synapse whose activity is essential for movement. CMS with acetylcholinesterase (AChE) deficiency are caused by mutations in COLQ, a collagen that anchors AChE in the synapse. To study the pathophysiological mechanisms of the disease in human cells, we have generated iPSC from a patient's Peripheral Blood Mononuclear cells (PBMC) by reprogramming these cells using a non-integrative method using Sendai viruses bearing the four Yamanaka factors Oct3/4, Sox2, Klf4, and L-Myc.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acetylcholinesterase / genetics
  • Cell Line*
  • Collagen
  • Humans
  • Induced Pluripotent Stem Cells*
  • Kruppel-Like Factor 4
  • Leukocytes, Mononuclear
  • Muscle Proteins / genetics
  • Mutation / genetics
  • Myasthenic Syndromes, Congenital* / genetics


  • KLF4 protein, human
  • Kruppel-Like Factor 4
  • Muscle Proteins
  • Collagen
  • Acetylcholinesterase
  • COLQ protein, human