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

Mira Holliday, Samantha Barratt Ross, Seakcheng Lim, Melissa Mangala, Adam Hill, Henrietta Cserne Szappanos, Livia Hool, Christopher Semsarian

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)269-273
Number of pages5
JournalStem Cell Research
Volume33
DOIs
Publication statusPublished - 1 Dec 2018

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Induced Pluripotent Stem Cells
Myosin Heavy Chains
Hypertrophic Cardiomyopathy
Mutation
Sudden Cardiac Death
Genetic Testing
Left Ventricular Hypertrophy
Cardiomyopathies
Karyotype
Blood Cells
Heart Failure
Cell Line

Cite this

Holliday, Mira ; Ross, Samantha Barratt ; Lim, Seakcheng ; Mangala, Melissa ; Hill, Adam ; Szappanos, Henrietta Cserne ; Hool, Livia ; Semsarian, Christopher. / Development of induced pluripotent stem cells from a patient with hypertrophic cardiomyopathy who carries the pathogenic myosin heavy chain 7 mutation p.Arg403Gln. In: Stem Cell Research. 2018 ; Vol. 33. pp. 269-273.
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Development of induced pluripotent stem cells from a patient with hypertrophic cardiomyopathy who carries the pathogenic myosin heavy chain 7 mutation p.Arg403Gln. / Holliday, Mira; Ross, Samantha Barratt; Lim, Seakcheng; Mangala, Melissa; Hill, Adam; Szappanos, Henrietta Cserne; Hool, Livia; Semsarian, Christopher.

In: Stem Cell Research, Vol. 33, 01.12.2018, p. 269-273.

Research output: Contribution to journalArticle

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