Generation and cardiac differentiation of a human induced pluripotent stem cell line UALGi002-A from a female patient with Left-Ventricular Noncompaction Cardiomyopathy

Sofia M Calado; Dina Bento; Nuno Marques; José Bragança

doi:10.1016/j.scr.2021.102462

Generation and cardiac differentiation of a human induced pluripotent stem cell line UALGi002-A from a female patient with Left-Ventricular Noncompaction Cardiomyopathy

Stem Cell Res. 2021 Aug:55:102462. doi: 10.1016/j.scr.2021.102462. Epub 2021 Jul 13.

Authors

Sofia M Calado¹, Dina Bento², Nuno Marques³, José Bragança⁴

Affiliations

¹ CBMR, Centre for Biomedical Research, Universidade do Algarve, 8005-139 Faro, Portugal; Faculdade de Medicina e Ciências Biomédicas (FMCB), Universidade do Algarve, Campus de Gambelas, 8005-139 Faro, Portugal; ABC-RI, Algarve Biomedical Center Research Institute, 8005-139 Faro, Portugal.
² Centro Hospitalar e Universitário do Algarve, Department of Cardiology, Faro, Portugal.
³ Faculdade de Medicina e Ciências Biomédicas (FMCB), Universidade do Algarve, Campus de Gambelas, 8005-139 Faro, Portugal; ABC-RI, Algarve Biomedical Center Research Institute, 8005-139 Faro, Portugal; Centro Hospitalar e Universitário do Algarve, Department of Cardiology, Faro, Portugal.
⁴ CBMR, Centre for Biomedical Research, Universidade do Algarve, 8005-139 Faro, Portugal; Faculdade de Medicina e Ciências Biomédicas (FMCB), Universidade do Algarve, Campus de Gambelas, 8005-139 Faro, Portugal; ABC-RI, Algarve Biomedical Center Research Institute, 8005-139 Faro, Portugal; Champalimaud Research Program, Champalimaud Center for the Unknown, 1400-038 Lisbon, Portugal. Electronic address: jebraganca@ualg.pt.

PMID: 34280889
DOI: 10.1016/j.scr.2021.102462

Abstract

Left Ventricular Noncompaction Cardiomyopathy (LVNC) is characterized by abnormal number and prominence of trabeculations of the left ventricle of the heart. Although LVNC has been associated with mutations in several genes encoding for transcriptional regulators, ion channels, sarcomeric and mitochondrial proteins, approximately 60% of LVNC patients do not present these genetic alterations. Here, we describe an induced pluripotent stem cell (hiPSC) line (UALGi002-A) originated from a LVNC female patient (LVNC-hiPSC) who does not present any previously known mutations associated to LVNC. The LVNC-hiPSC exhibited full pluripotency and differentiation potential and retained a normal karyotype after reprogramming. Moreover, the LVNC-hiPSC differentiated into contracting cardiomyocytes. This cellular model will be useful to study the molecular, genetic and functional aspects of LVNC in vitro.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cardiomyopathies* / genetics
Cell Differentiation
Female
Heart Ventricles
Humans
Induced Pluripotent Stem Cells*
Isolated Noncompaction of the Ventricular Myocardium*