Holliday, Mira and Ross, Samantha Barratt and Lim, Seakcheng and Mangala, Melissa and Hill, Adam P and Szappanos, Henrietta Cserne and Hool, Livia and Semsarian, Christopher (2018) Development of induced pluripotent stem cells from a patient with hypertrophic cardiomyopathy who carries the pathogenic myosin heavy chain 7 mutation p.Arg403Gln. Stem Cell Research, 33. pp.269-273. ISSN 18735061 (Not OA)
Full text not available from this repository.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.
| Item Type: | Article |
|---|---|
| Subjects: | R Medicine > R Medicine (General) |
| Depositing User: | Repository Administrator |
| Date Deposited: | 10 Dec 2018 23:50 |
| Last Modified: | 11 Jan 2019 03:08 |
| URI: | https://eprints.victorchang.edu.au/id/eprint/778 |
Actions (login required)
 |
View Item |