Generation of an induced pluripotent stem cell line, ICGi029-A, by reprogramming peripheral blood mononuclear cells of a patient suffering from hypertrophic cardiomyopathy and carrying a heterozygous p.N515del mutation in MYBPC3

Autor: E.V. Dementyeva, S.V. Pavlova, A.M. Chernyavsky, S.M. Zakian
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Zdroj: Stem Cell Research, Vol 53, Iss , Pp 102344- (2021)
Druh dokumentu: article
ISSN: 1873-5061
DOI: 10.1016/j.scr.2021.102344
Popis: Hypertrophic cardiomyopathy (HCM) is a common cardiovascular disease. However, effective methods of its therapy have not been developed so far. To date patient-specific induced pluripotent stem cell-derived cardiomyocytes are supposed to be a useful tool for studying HCM molecular mechanisms and to help find new approaches to HCM therapy. Using non-integrating episomal vectors, we generated an iPSC line from peripheral blood mononuclear cells of an HCM patient carrying a heterozygous p.N515del mutation in MYBPC3. The iPSC line expressed pluripotency markers, gave rise to derivatives of three germ layers during spontaneous differentiation, had normal karyotype, and retained the patient-specific mutation.
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