Find in Library
Search millions of books, articles, and more
Indexed Open Access Databases
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
oleh: Susie Barbeau, Romain Desprat, Bruno Eymard, Cécile Martinat, Jean-Marc Lemaitre, Claire Legay
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2020-12-01 |
Deskripsi
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.