Development of induced pluripotent stem cells from a patient with hypertrophic cardiomyopathy who carries the pathogenic myosin heavy chain 7 mutation p.Arg403Gln.

Autor:	Holliday M; Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, Australia; Sydney Medical School, University of Sydney, Sydney, Australia., Ross SB; Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, Australia; Sydney Medical School, University of Sydney, Sydney, Australia., Lim S; Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, Australia., Mangala M; Molecular Cardiology and Biophysics Division, Victor Chang Cardiac Research Institute, Darlinghurst, Australia., Hill A; Molecular Cardiology and Biophysics Division, Victor Chang Cardiac Research Institute, Darlinghurst, Australia; St. Vincent's Clinical School, Univeristy of NSW, Sydney, Australia., Szappanos HC; School of Human Sciences, The University of Western Australia, Crawley, Australia., Hool L; Molecular Cardiology and Biophysics Division, Victor Chang Cardiac Research Institute, Darlinghurst, Australia; School of Human Sciences, The University of Western Australia, Crawley, Australia., Semsarian C; Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, Australia; Sydney Medical School, University of Sydney, Sydney, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia. Electronic address: c.semsarian@centenary.org.au.
Jazyk:	angličtina
Zdroj:	Stem cell research [Stem Cell Res] 2018 Dec; Vol. 33, pp. 269-273. Date of Electronic Publication: 2018 Nov 28.
DOI:	10.1016/j.scr.2018.11.011
Abstrakt:	Hypertrophic cardiomyopathy (HCM) is an inherited cardiomyopathy characterized by left ventricular hypertrophy ≥15 mm in the absence of loading conditions. HCM has a prevalence of up to one in 200, and can result in significant adverse outcomes including heart failure and sudden cardiac death. An induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells obtained from the whole blood of a 38-year-old female patient with HCM in which genetic testing identified the well-known pathogenic p.Arg403Gln mutation in myosin heavy chain 7. iPSCs express pluripotency markers, demonstrate trilineage differentiation capacity, and display a normal 46,XX female karyotype. This resource will allow further assessment of the pathophysiological development of HCM. (Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.)
Databáze:	MEDLINE
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