Аннотация
Hypertrophic cardiomyopathy (HCM) is a frequent cardiovascular pathology caused by a huge number of mutations in sarcomere-associated proteins. This genetic diversity leads to differences in pathogenetic mechanisms and hampers HCM therapy. Cardiomyocytes derived from patient-specific induced pluripotent stem cells give new opportunities for studying underlying HCM mechanisms. We generated an iPSC line from peripheral blood mononuclear cells of an HCM patient with a heterozygous p.E510Q mutation in HADHA using non-integrating episomal vectors. The iPSC line showed typical morphology, expression of pluripotency markers, capacity to be differentiated into derivatives of three germ layers, and presence of the patient-specific mutation.
Язык оригинала | английский |
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Номер статьи | 102348 |
Страницы (с-по) | 102348 |
Журнал | Stem Cell Research |
Том | 53 |
Ранняя дата в режиме онлайн | 19 апр. 2021 |
DOI | |
Состояние | Опубликовано - мая 2021 |
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