Peripheral blood derived induced pluripotent stem cells (iPSCs) from a female with familial hypertrophic cardiomyopathy

Samantha Barratt Ross; Stuart T. Fraser; Richard D. Bagnall; Christopher Semsarian

doi:10.1016/j.scr.2017.02.016

Stem Cell Research (Apr 2017)

Peripheral blood derived induced pluripotent stem cells (iPSCs) from a female with familial hypertrophic cardiomyopathy

Samantha Barratt Ross,
Stuart T. Fraser,
Richard D. Bagnall,
Christopher Semsarian

Affiliations

Samantha Barratt Ross: Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Newtown, Australia
Stuart T. Fraser: Disciplines of Physiology, Anatomy & Histology, School of Medical Sciences, University of Sydney, Sydney, Australia
Richard D. Bagnall: Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Newtown, Australia
Christopher Semsarian: Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Newtown, Australia

DOI: https://doi.org/10.1016/j.scr.2017.02.016
Journal volume & issue: Vol. 20, no. C
pp. 76 – 79

Abstract

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Induced pluripotent stem cells (iPSCs) were generated from peripheral blood mononuclear cells (PBMCs) obtained from a 62-year-old female with familial hypertrophic cardiomyopathy (HCM). PBMCs were reprogrammed to a pluripotent state following transfection with non-integrative episomal vectors carrying reprogramming factors OCT4, SOX2, LIN28, KLF4 and L-MYC. iPSCs were shown to express pluripotency markers, possess trilineage differentiation potential, carry rare variants identified in DNA isolated directly from the patient's whole blood, have a normal karyotype and no longer carry episomal vectors for reprogramming. This line is a useful resource for identifying unknown genetic causes of HCM.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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