Generation of two genomic-integration-free DMD iPSC lines with mutations affecting all dystrophin isoforms and potentially amenable to exon-skipping

Generation of two genomic-integration-free DMD iPSC lines with mutations affecting all dystrophin isoforms and potentially amenable to exon-skipping

Duchenne muscular dystrophy (DMD) is the most common paediatric muscular dystrophy and is caused by mutations in the DYSTROPHIN gene. We generated two induced pluripotent stem cell (iPSC) lines from DMD patients with nonsense mutations in exons 68 (UCLi011-A) or 70 (UCLi012-A) by transfecting reprog...

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Main Authors: Giulia Ferrari, Francesco Muntoni, Francesco Saverio Tedesco
Format: Article
Language:English
Published: Elsevier 2020-03-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506119303186
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spelling doaj-41427e97302f4f189bd88c7891c9d1702020-11-25T03:01:00ZengElsevierStem Cell Research1873-50612020-03-0143Generation of two genomic-integration-free DMD iPSC lines with mutations affecting all dystrophin isoforms and potentially amenable to exon-skippingGiulia Ferrari0Francesco Muntoni1Francesco Saverio Tedesco2Department of Cell and Developmental Biology, University College London, WC1E 6DE London, United KingdomDubowitz Neuromuscular Centre, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, United Kingdom; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United KingdomDepartment of Cell and Developmental Biology, University College London, WC1E 6DE London, United Kingdom; Dubowitz Neuromuscular Centre, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, United Kingdom; Corresponding author.Duchenne muscular dystrophy (DMD) is the most common paediatric muscular dystrophy and is caused by mutations in the DYSTROPHIN gene. We generated two induced pluripotent stem cell (iPSC) lines from DMD patients with nonsense mutations in exons 68 (UCLi011-A) or 70 (UCLi012-A) by transfecting reprogramming mRNAs. Both mutations affect expression of all dystrophin isoforms. iPSCs expressed pluripotency-associated markers, differentiated into cells of the three germ layers in vitro and had normal karyotypes. The selected mutations are potentially amenable to read-through therapies, exon-skipping and gene-editing. These new iPSCs are also relevant to study DYSTROPHIN role in tissues other than skeletal muscle.http://www.sciencedirect.com/science/article/pii/S1873506119303186
collection DOAJ
language English
format Article
sources DOAJ
author Giulia Ferrari
Francesco Muntoni
Francesco Saverio Tedesco
spellingShingle Giulia Ferrari
Francesco Muntoni
Francesco Saverio Tedesco
Generation of two genomic-integration-free DMD iPSC lines with mutations affecting all dystrophin isoforms and potentially amenable to exon-skipping
Stem Cell Research
author_facet Giulia Ferrari
Francesco Muntoni
Francesco Saverio Tedesco
author_sort Giulia Ferrari
title Generation of two genomic-integration-free DMD iPSC lines with mutations affecting all dystrophin isoforms and potentially amenable to exon-skipping
title_short Generation of two genomic-integration-free DMD iPSC lines with mutations affecting all dystrophin isoforms and potentially amenable to exon-skipping
title_full Generation of two genomic-integration-free DMD iPSC lines with mutations affecting all dystrophin isoforms and potentially amenable to exon-skipping
title_fullStr Generation of two genomic-integration-free DMD iPSC lines with mutations affecting all dystrophin isoforms and potentially amenable to exon-skipping
title_full_unstemmed Generation of two genomic-integration-free DMD iPSC lines with mutations affecting all dystrophin isoforms and potentially amenable to exon-skipping
title_sort generation of two genomic-integration-free dmd ipsc lines with mutations affecting all dystrophin isoforms and potentially amenable to exon-skipping
publisher Elsevier
series Stem Cell Research
issn 1873-5061
publishDate 2020-03-01
description Duchenne muscular dystrophy (DMD) is the most common paediatric muscular dystrophy and is caused by mutations in the DYSTROPHIN gene. We generated two induced pluripotent stem cell (iPSC) lines from DMD patients with nonsense mutations in exons 68 (UCLi011-A) or 70 (UCLi012-A) by transfecting reprogramming mRNAs. Both mutations affect expression of all dystrophin isoforms. iPSCs expressed pluripotency-associated markers, differentiated into cells of the three germ layers in vitro and had normal karyotypes. The selected mutations are potentially amenable to read-through therapies, exon-skipping and gene-editing. These new iPSCs are also relevant to study DYSTROPHIN role in tissues other than skeletal muscle.
url http://www.sciencedirect.com/science/article/pii/S1873506119303186
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AT francescomuntoni generationoftwogenomicintegrationfreedmdipsclineswithmutationsaffectingalldystrophinisoformsandpotentiallyamenabletoexonskipping
AT francescosaveriotedesco generationoftwogenomicintegrationfreedmdipsclineswithmutationsaffectingalldystrophinisoformsandpotentiallyamenabletoexonskipping
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