TY - JOUR

T1 - 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

AU - Dementyeva, E. V.

AU - Vyatkin, Yu V.

AU - Chernyavsky, A. M.

AU - Zakian, S. M.

N1 - Funding Information: E.N. Meshalkin National Medical Research Center provided with the HCM patient’s blood sample. Yu.V. Vyatkin participated in analysing massive parallel sequencing results. MNC reprogramming and iPSC line characterization were performed at the Federal Research Center Institute of Cytology and Genetics and supported by the Russian Science Foundation (grant no. 18-75-10039). Publisher Copyright: © 2021 The Author(s) + Copyright 2021 Elsevier B.V., All rights reserved.

PY - 2021/5

Y1 - 2021/5

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85104363014&partnerID=8YFLogxK

U2 - 10.1016/j.scr.2021.102348

DO - 10.1016/j.scr.2021.102348

M3 - Article

C2 - 33887580

AN - SCOPUS:85104363014

VL - 53

SP - 102348

JO - Stem Cell Research

JF - Stem Cell Research

SN - 1873-5061

M1 - 102348

ER -