Generation of one control and four iPSCs clones from patients with Emery-Dreifuss muscular dystrophy type 1

Generation of one control and four iPSCs clones from patients with Emery-Dreifuss muscular dystrophy type 1

Emery-Dreifuss muscular dystrophy type 1 (EDMD1) is a rare genetic disease caused by mutations in the EMD gene coding for a nuclear envelope protein emerin. We generated and characterized induced pluripotent stem cells (iPSCs) from two EDMD1 patients bearing a mutation c.del153C and from one healthy...

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Main Authors: Magdalena Machowska, Claudia Bearzi, Katarzyna Piekarowicz, Izabela Łaczmańska, Ryszard Rzepecki
Format: Article
Language:English
Published: Elsevier 2021-08-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506121003342
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spelling doaj-354f989180994806a502931ee506ba312021-09-11T04:28:23ZengElsevierStem Cell Research1873-50612021-08-0155102487Generation of one control and four iPSCs clones from patients with Emery-Dreifuss muscular dystrophy type 1Magdalena Machowska0Claudia Bearzi1Katarzyna Piekarowicz2Izabela Łaczmańska3Ryszard Rzepecki4Laboratory of Nuclear Proteins, Faculty of Biotechnology, University of Wroclaw, Fryderyka Joliot-Curie 14a, 50-383 Wrocław, Poland; Corresponding author.Institute of Genetic and Biomedical Research (IRGB) National Research Council of Italy (CNR), Via Fantoli 16/15, 20138 Milan, Italy; The National Institute of Molecular Genetics (INGM) ‘Romeo ed Enrica Invernizzi’, Via Francesco Sforza 35, 20122 Milan, ItalyLaboratory of Nuclear Proteins, Faculty of Biotechnology, University of Wroclaw, Fryderyka Joliot-Curie 14a, 50-383 Wrocław, PolandDepartment of Genetics, Wroclaw Medical University, Marcinkowskiego 1, 50-368 Wroclaw, PolandLaboratory of Nuclear Proteins, Faculty of Biotechnology, University of Wroclaw, Fryderyka Joliot-Curie 14a, 50-383 Wrocław, PolandEmery-Dreifuss muscular dystrophy type 1 (EDMD1) is a rare genetic disease caused by mutations in the EMD gene coding for a nuclear envelope protein emerin. We generated and characterized induced pluripotent stem cells (iPSCs) from two EDMD1 patients bearing a mutation c.del153C and from one healthy donor. That mutation leads to generation of premature STOP codon. Established iPSCs are very valuable tool for disease pathogenesis investigation and for the development of new therapeutic methods after differentiation to cardiac or muscle cells. Obtained iPSCs show the proper morphology, pluripotency markers expression, normal karyotype and potential to differentiate into three germ layers.http://www.sciencedirect.com/science/article/pii/S1873506121003342
collection DOAJ
language English
format Article
sources DOAJ
author Magdalena Machowska
Claudia Bearzi
Katarzyna Piekarowicz
Izabela Łaczmańska
Ryszard Rzepecki
spellingShingle Magdalena Machowska
Claudia Bearzi
Katarzyna Piekarowicz
Izabela Łaczmańska
Ryszard Rzepecki
Generation of one control and four iPSCs clones from patients with Emery-Dreifuss muscular dystrophy type 1
Stem Cell Research
author_facet Magdalena Machowska
Claudia Bearzi
Katarzyna Piekarowicz
Izabela Łaczmańska
Ryszard Rzepecki
author_sort Magdalena Machowska
title Generation of one control and four iPSCs clones from patients with Emery-Dreifuss muscular dystrophy type 1
title_short Generation of one control and four iPSCs clones from patients with Emery-Dreifuss muscular dystrophy type 1
title_full Generation of one control and four iPSCs clones from patients with Emery-Dreifuss muscular dystrophy type 1
title_fullStr Generation of one control and four iPSCs clones from patients with Emery-Dreifuss muscular dystrophy type 1
title_full_unstemmed Generation of one control and four iPSCs clones from patients with Emery-Dreifuss muscular dystrophy type 1
title_sort generation of one control and four ipscs clones from patients with emery-dreifuss muscular dystrophy type 1
publisher Elsevier
series Stem Cell Research
issn 1873-5061
publishDate 2021-08-01
description Emery-Dreifuss muscular dystrophy type 1 (EDMD1) is a rare genetic disease caused by mutations in the EMD gene coding for a nuclear envelope protein emerin. We generated and characterized induced pluripotent stem cells (iPSCs) from two EDMD1 patients bearing a mutation c.del153C and from one healthy donor. That mutation leads to generation of premature STOP codon. Established iPSCs are very valuable tool for disease pathogenesis investigation and for the development of new therapeutic methods after differentiation to cardiac or muscle cells. Obtained iPSCs show the proper morphology, pluripotency markers expression, normal karyotype and potential to differentiate into three germ layers.
url http://www.sciencedirect.com/science/article/pii/S1873506121003342
work_keys_str_mv AT magdalenamachowska generationofonecontrolandfouripscsclonesfrompatientswithemerydreifussmusculardystrophytype1
AT claudiabearzi generationofonecontrolandfouripscsclonesfrompatientswithemerydreifussmusculardystrophytype1
AT katarzynapiekarowicz generationofonecontrolandfouripscsclonesfrompatientswithemerydreifussmusculardystrophytype1
AT izabelałaczmanska generationofonecontrolandfouripscsclonesfrompatientswithemerydreifussmusculardystrophytype1
AT ryszardrzepecki generationofonecontrolandfouripscsclonesfrompatientswithemerydreifussmusculardystrophytype1
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