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

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

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 th...

Full description

Bibliographic Details
Main Authors: Susie Barbeau, Romain Desprat, Bruno Eymard, Cécile Martinat, Jean-Marc Lemaitre, Claire Legay
Format: Article
Language:English
Published: Elsevier 2020-12-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506120304074
id doaj-52966dba66814bcb9e8ab2d0eeb1a89f
record_format Article
spelling doaj-52966dba66814bcb9e8ab2d0eeb1a89f2020-12-19T05:05:12ZengElsevierStem Cell Research1873-50612020-12-0149102106Generation 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 COLQSusie Barbeau0Romain Desprat1Bruno Eymard2Cécile Martinat3Jean-Marc Lemaitre4Claire Legay5Paris University, SPPIN CNRS 8003 Laboratory, Paris, FranceSAFE-iPSC Facility INGESTEM, Univ. Montpellier, CHU de Montpellier, FranceParis-Est Neuromuscular Center, Institut de Myologie, Hôpital Pitié-Salpêtrière, Paris, FranceINSERM UEVE UMR 861, Paris Saclay Univ. I-STEM, 91100 Corbeil-Essonnes, FranceSAFE-iPSC Facility INGESTEM, Univ. Montpellier, CHU de Montpellier, France; Institute for Regenerative Medicine and Biotherapy, INSERM UMR1183, Univ Montpellier, Montpellier, FranceParis University, SPPIN CNRS 8003 Laboratory, Paris, France; Corresponding author.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.http://www.sciencedirect.com/science/article/pii/S1873506120304074
collection DOAJ
language English
format Article
sources DOAJ
author Susie Barbeau
Romain Desprat
Bruno Eymard
Cécile Martinat
Jean-Marc Lemaitre
Claire Legay
spellingShingle Susie Barbeau
Romain Desprat
Bruno Eymard
Cécile Martinat
Jean-Marc Lemaitre
Claire Legay
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 Research
author_facet Susie Barbeau
Romain Desprat
Bruno Eymard
Cécile Martinat
Jean-Marc Lemaitre
Claire Legay
author_sort Susie Barbeau
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
title_short 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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_sort 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
publisher Elsevier
series Stem Cell Research
issn 1873-5061
publishDate 2020-12-01
description 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.
url http://www.sciencedirect.com/science/article/pii/S1873506120304074
work_keys_str_mv AT susiebarbeau generationofahumaninducedpluripotentstemcelllineipscfromperipheralbloodmononuclearcellsofapatientwithamyasthenicsyndromeduetomutationincolq
AT romaindesprat generationofahumaninducedpluripotentstemcelllineipscfromperipheralbloodmononuclearcellsofapatientwithamyasthenicsyndromeduetomutationincolq
AT brunoeymard generationofahumaninducedpluripotentstemcelllineipscfromperipheralbloodmononuclearcellsofapatientwithamyasthenicsyndromeduetomutationincolq
AT cecilemartinat generationofahumaninducedpluripotentstemcelllineipscfromperipheralbloodmononuclearcellsofapatientwithamyasthenicsyndromeduetomutationincolq
AT jeanmarclemaitre generationofahumaninducedpluripotentstemcelllineipscfromperipheralbloodmononuclearcellsofapatientwithamyasthenicsyndromeduetomutationincolq
AT clairelegay generationofahumaninducedpluripotentstemcelllineipscfromperipheralbloodmononuclearcellsofapatientwithamyasthenicsyndromeduetomutationincolq
_version_ 1724377860675731456

Similar Items