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
Summary
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. Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Dementyeva EV, Vyatkin YV, Chernyavsky AM, Zakian SM |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2021 May;53:102348 |
| PubMed | 33887580 |
| DOI | 10.1016/j.scr.2021.102348 |