Generation of human induced pluripotent stem cell (hiPSC) lines derived from three patients carrying the pathogenic CRYAB (A527G) mutation and one non-carrier family member.

Autor:	Kelters IR; Utrecht Regenerative Medicine Center, Circulatory Health Laboratory, University Utrecht, Department of Cardiology, University Medical Center Utrecht, 3508 GA Utrecht, the Netherlands; Experimental Cardiology Laboratory, Department of Heart & Lungs, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands., Verbueken D; Amsterdam Cardiovascular Sciences, Department of Physiology, VU University, Amsterdam University Medical Center, De Boelelaan 1108, 1081 HZ Amsterdam, the Netherlands; Amsterdam Heart Center, Department of Cardiology, Amsterdam University Medical Centers, De Boelelaan 1117, 1081 HZ Amsterdam, the Netherlands., Beekink T; Utrecht Regenerative Medicine Center, Circulatory Health Laboratory, University Utrecht, Department of Cardiology, University Medical Center Utrecht, 3508 GA Utrecht, the Netherlands., Van Laake LW; Experimental Cardiology Laboratory, Department of Heart & Lungs, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands., Sluijter JPG; Utrecht Regenerative Medicine Center, Circulatory Health Laboratory, University Utrecht, Department of Cardiology, University Medical Center Utrecht, 3508 GA Utrecht, the Netherlands; Experimental Cardiology Laboratory, Department of Heart & Lungs, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands. Electronic address: j.sluijter@umcutrecht.nl., Maas RGC; Utrecht Regenerative Medicine Center, Circulatory Health Laboratory, University Utrecht, Department of Cardiology, University Medical Center Utrecht, 3508 GA Utrecht, the Netherlands; Experimental Cardiology Laboratory, Department of Heart & Lungs, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands. Electronic address: r.g.c.maas-4@umcutrecht.nl., Buikema JW; Amsterdam Cardiovascular Sciences, Department of Physiology, VU University, Amsterdam University Medical Center, De Boelelaan 1108, 1081 HZ Amsterdam, the Netherlands; Amsterdam Heart Center, Department of Cardiology, Amsterdam University Medical Centers, De Boelelaan 1117, 1081 HZ Amsterdam, the Netherlands. Electronic address: j.w.buikema@amsterdamumc.nl.
Jazyk:	angličtina
Zdroj:	Stem cell research [Stem Cell Res] 2024 Oct; Vol. 80, pp. 103497. Date of Electronic Publication: 2024 Jul 24.
DOI:	10.1016/j.scr.2024.103497
Abstrakt:	A newly identified pathogenic variant (A527G) in alpha B-crystallin (αB-crystallin) has been linked to congenital cataract and young-onset dilated cardiomyopathy (DCM) within a Dutch family, although the disease mechanism remains unclear. Four human induced pluripotent stem cell (hiPSC) clones were generated from three symptomatic patients carrying the A527G variant, and one healthy proband. Peripheral blood mononuclear cells (PBMCs) were reprogrammed using integration-free Sendai viral pluripotency vectors. The established hiPSCs clones exhibited regular ESC-like morphology, expression of pluripotency markers, and normal karyotyping. These hiPSC lines can facilitate future studies to understand the chaperone function and its role in DCM disease progression. Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. (Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.)
Databáze:	MEDLINE
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