Development of induced pluripotent stem cells from a patient with hypertrophic cardiomyopathy who carries the pathogenic myosin heavy chain 7 mutation p.Arg403Gln.
Full text not available from this repository.Item Type: | Article |
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Status: | Published |
Official URL: | https://doi.org/10.1016/j.scr.2018.11.011 |
Journal or Publication Title: | Stem Cell Research |
Volume: | 33 |
Page Range: | pp. 269-273 |
Date: | 2018 |
Divisions: | Molecular Cardiology |
Depositing User: | General Admin |
Identification Number: | 10.1016/j.scr.2018.11.011 |
ISSN: | 18735061 |
Date Deposited: | 04 Jan 2021 23:09 |
Abstract: | 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. |
Creators: | Creators Email Holliday, Mira UNSPECIFIED Ross, Samantha Barratt UNSPECIFIED Lim, Seakcheng UNSPECIFIED Mangala, Melissa UNSPECIFIED Hill, Adam UNSPECIFIED Szappanos, Henrietta Cserne UNSPECIFIED Hool, Livia UNSPECIFIED Semsarian, Christopher UNSPECIFIED |
Last Modified: | 04 Jan 2021 23:09 |
URI: | https://eprints.centenary.org.au/id/eprint/591 |
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