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 language | English |
|---|---|
| Pages (from-to) | 269-273 |
| Number of pages | 5 |
| Journal | Stem Cell Research |
| Volume | 33 |
| DOIs | |
| Publication status | Published - 1 Dec 2018 |
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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 journal › Article
TY - JOUR
T1 - Development of induced pluripotent stem cells from a patient with hypertrophic cardiomyopathy who carries the pathogenic myosin heavy chain 7 mutation p.Arg403Gln
AU - Holliday, Mira
AU - Ross, Samantha Barratt
AU - Lim, Seakcheng
AU - Mangala, Melissa
AU - Hill, Adam
AU - Szappanos, Henrietta Cserne
AU - Hool, Livia
AU - Semsarian, Christopher
PY - 2018/12/1
Y1 - 2018/12/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85057486912&partnerID=8YFLogxK
U2 - 10.1016/j.scr.2018.11.011
DO - 10.1016/j.scr.2018.11.011
M3 - Article
VL - 33
SP - 269
EP - 273
JO - Stem Cell Research
JF - Stem Cell Research
SN - 1873-5061
ER -