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
C2 - 30508693
AN - SCOPUS:85057486912
SN - 1873-5061
VL - 33
SP - 269
EP - 273
JO - Stem Cell Research
JF - Stem Cell Research
ER -