Generation of an induced pluripotent stem cell line from a hypertrophic cardiomyopathy patient with a pathogenic myosin binding protein C (MYBPC3) p.Arg502Trp mutation

Generation of an induced pluripotent stem cell line from a hypertrophic cardiomyopathy patient with a pathogenic myosin binding protein C (MYBPC3) p.Arg502Trp mutation.

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Item Type: Article
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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