| Title : 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 - Barbeau_2020_Stem.Cell.Res_49_102106 |
| Author(s) : Barbeau S , Desprat R , Eymard B , Martinat C , Lemaitre JM , Legay C |
| Ref : Stem Cell Res , 49 :102106 , 2020 |
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Abstract :
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. |
| PubMedSearch : Barbeau_2020_Stem.Cell.Res_49_102106 |
| PubMedID: 33370874 |
Barbeau S, Desprat R, Eymard B, Martinat C, Lemaitre JM, Legay C (2020)
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
49 :102106
Barbeau S, Desprat R, Eymard B, Martinat C, Lemaitre JM, Legay C (2020)
Stem Cell Res
49 :102106