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

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

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Item Type: Article
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
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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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