Generation of an induced pluripotent stem cell line from a hypertrophic cardiomyopathy patient with a pathogenic myosin binding protein C (MYBPC3) p.Arg502Trp mutation.
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.2018.10.009 |
Journal or Publication Title: | Stem Cell Research |
Volume: | 33 |
Page Range: | pp. 56-59 |
Date: | 2018 |
Divisions: | Molecular Cardiology |
Depositing User: | General Admin |
Identification Number: | 10.1016/j.scr.2018.10.009 |
ISSN: | 18735061 |
Date Deposited: | 04 Jan 2021 23:10 |
Abstract: | Hypertrophic cardiomyopathy is an inherited cardiomyopathy with a prevalence of up to 1 in 200, which can result in significant morbidity and mortality. An iPSC line was generated from peripheral blood mononuclear cells obtained from the whole blood of a 58-year-old male with hypertrophic cardiomyopathy who carries the heterozygous pathogenic myosin binding protein C mutation p.Arg502Trp. Induced pluripotent stem cells express pluripotency markers, demonstrate trilineage differentiation potential, and display a normal karyotype. This line is a useful resource for studying and modeling hypertrophic cardiomyopathy. |
Creators: | Creators Email Holliday, Mira UNSPECIFIED Ross, Samantha Barratt UNSPECIFIED Lim, Seakcheng UNSPECIFIED Semsarian, Christopher UNSPECIFIED |
Last Modified: | 04 Jan 2021 23:10 |
URI: | https://eprints.centenary.org.au/id/eprint/590 |
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