Universität zu Köln

Ratnavadivel, Sandra, de Toledo, Marcelo Szymanski, Rasmussen, Torsten Bloch ORCID: 0000-0003-1468-7248, Saric, Tomo, Gummert, Jan, Zenke, Martin and Milting, Hendrik (2020). Human pluripotent stem cell line (HDZi001-A) derived from a patient carrying the ARVC-5 associated mutation TMEM43-p.S358L. Stem Cell Res., 48. AMSTERDAM: ELSEVIER. ISSN 1876-7753

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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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Ratnavadivel, Sandra UNSPECIFIED UNSPECIFIED UNSPECIFIED de Toledo, Marcelo Szymanski UNSPECIFIED UNSPECIFIED UNSPECIFIED Rasmussen, Torsten Bloch UNSPECIFIED orcid.org/0000-0003-1468-7248 UNSPECIFIED Saric, Tomo UNSPECIFIED UNSPECIFIED UNSPECIFIED Gummert, Jan UNSPECIFIED UNSPECIFIED UNSPECIFIED Zenke, Martin UNSPECIFIED UNSPECIFIED UNSPECIFIED Milting, Hendrik UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-316692
DOI:	10.1016/j.scr.2020.101957
Journal or Publication Title:	Stem Cell Res.
Volume:	48
Date:	2020
Publisher:	ELSEVIER
Place of Publication:	AMSTERDAM
ISSN:	1876-7753
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language Cell & Tissue Engineering; Biotechnology & Applied Microbiology; Cell Biology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/31669