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Human pluripotent stem cell line (HDZi001-A) derived from a patient carrying the ARVC-5 associated mutation TMEM43-p.S358L.
Ratnavadivel, Sandra; Szymanski de Toledo, Marcelo; Rasmussen, Torsten Bloch; Saric, Tomo; Gummert, Jan; Zenke, Martin; Milting, Hendrik.
Afiliación
  • Ratnavadivel S; Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, D-32545 Bad Oeynhausen, Georgstrasse 11, Germany.
  • Szymanski de Toledo M; Institute for Biomedical Engineering - Cell Biology, RWTH Aachen University Medical School, D-52074 Aachen, Pauwelstrasse 30, Germany; Helmholtz Institute for Biomedical Engineering, RWTH Aachen University, D-52074 Aachen, Pauwelstrasse 20, Germany.
  • Rasmussen TB; Department of Cardiology, Aarhus University Hospital, Brendstrupgaardsvej 100, Aarhus, Denmark.
  • Saric T; Center for Physiology and Pathophysiology, Institute for Neurophysiology Medical Faculty, University of Cologne, D-50931, Robert-Koch-Strasse 39, Germany.
  • Gummert J; Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, D-32545 Bad Oeynhausen, Georgstrasse 11, Germany.
  • Zenke M; Institute for Biomedical Engineering - Cell Biology, RWTH Aachen University Medical School, D-52074 Aachen, Pauwelstrasse 30, Germany; Helmholtz Institute for Biomedical Engineering, RWTH Aachen University, D-52074 Aachen, Pauwelstrasse 20, Germany.
  • Milting H; Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, D-32545 Bad Oeynhausen, Georgstrasse 11, Germany. Electronic address: hmilting@hdz-nrw.de.
Stem Cell Res ; 48: 101957, 2020 10.
Article en En | MEDLINE | ID: mdl-32858485
ABSTRACT
Arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC-5) is a dominantly inherited cardiomyopathy caused by the mutation TMEM43-p.S358L. An induced pluripotent stem cell (iPSC) line (HDZi001-A) from an adult male mutation carrier was generated, using the CytoTune Sendai Kit. The resulting iPSCs carried the mutation TMEM43-p.S358L, had a normal morphology, a stable karyotype and were positive for the expression of pluripotency markers. This iPSC line can be differentiated into the three germ layers and might be a useful model for the characterization of ARVC-5 associated pathomechanism.
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Displasia Ventricular Derecha Arritmogénica / Células Madre Pluripotentes Inducidas Tipo de estudio: Risk_factors_studies Límite: Adult / Humans / Male Idioma: En Revista: Stem Cell Res Año: 2020 Tipo del documento: Article País de afiliación: Alemania
Texto completo
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Imprimir
XML
PubMed Links
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Displasia Ventricular Derecha Arritmogénica / Células Madre Pluripotentes Inducidas Tipo de estudio: Risk_factors_studies Límite: Adult / Humans / Male Idioma: En Revista: Stem Cell Res Año: 2020 Tipo del documento: Article País de afiliación: Alemania