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
Summary
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. Copyright © 2020. Published by Elsevier B.V.
| Authors | Barbeau S, Desprat R, Eymard B, Martinat C, Lemaitre JM, Legay C |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2020 Dec;49:102106 |
| PubMed | 33370874 |
| DOI | 10.1016/j.scr.2020.102106 |