Generation of an induced pluripotent stem cell line, ICGi028-A, by reprogramming peripheral blood mononuclear cells of a patient suffering from hypertrophic cardiomyopathy and carrying a heterozygous p.E510Q mutation in HADHA

E. V. Dementyeva, Yu V. Vyatkin, A. M. Chernyavsky, S. M. Zakian

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Article number102348
JournalStem Cell Research
Volume53
Early online date19 Apr 2021
DOIs
Publication statusPublished - May 2021

OECD FOS+WOS

  • 1.06 BIOLOGICAL SCIENCES

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