Centro Cardiologico Monzino IRCCS
Published January 28, 2021 | Version v1
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Dataset related to the article:"Generation of the Becker muscular dystrophy patient derived induced pluripotent stem cell line carrying the DMD splicing mutation c.1705-8 T>C."

Authors/Creators

  • 1. Centro Cardiologico Monzino-IRCCS, Unit of Vascular Biology and Regenerative Medicine, Milan, Italy
  • 2. Stem Cell Laboratory, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Unit of Neurology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Centro Dino Ferrari, Milan, Italy
  • 3. Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy
  • 4. Laboratory of Medical Genetics, Fondazione IRCCS Ca' Grande, Ospedale Maggiore Policlinico, Milan, Italy
  • 5. Centro Cardiologico Monzino-IRCCS, Unit of Vascular Biology and Regenerative Medicine, Milan, Italy; Centro Cardiologico Monzino-IRCCS, Department of Cardiac Surgery, Centro Cardiologico Monzino IRCCS, Milan, Italy;Department of Clinical Sciences and Community Health, Università degli Studi di Milano, Italy

Description

This record contains raw data related to the article: "Generation of the Becker muscular dystrophy patient derived induced pluripotent stem cell line carrying the DMD splicing mutation c.1705-8 T>C."

Abstract:

Becker Muscular dystrophy (BMD) is an X-linked syndrome characterized by progressive muscle weakness. BMD is generally less severe than Duchenne Muscular
Dystrophy. BMD is caused by mutations in the dystrophin gene that normally give rise to the production of a truncated but partially functional dystrophin protein. We
generated an induced pluripotent cell line from dermal fibroblasts of a BMD patient carrying a splice mutation in the dystrophin gene (c.1705-8 T>C). The iPSC cellline
displayed the characteristic pluripotent-like morphology, expressed pluripotency markers, differentiated into cells of the three germ layers and had a normal
karyotype.

Notes

Founded By: Fondazione IEO-CCM; Italian Ministry of Health; Fondazione Umberto Veronesi; Fondazione Telethon

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Additional details

Related works

Is supplement to
Journal article: 10.1016/j.scr.2020.101819 (DOI)

Funding

European Commission
ERA-CVD - ERA-NET on cardiovascular diseases to implement joint transnational research projects and set up international cooperations 680969