Marfan syndrome (MFS) is a heritable dominant disorder of fibrous connective tissue, caused by mutations in the gene encoding fibrillin-1 on chromosome 15. Here, we report an induced pluripotent stem cell (iPSC) line generated from a patient with MFS who carries a heterozygous mutation of c.2777G > A(p.Cys926Tyr) in the FBN1 gene using an episomal method. The hiPS-MFS cell line has normal karyotype, expresses pluripotency markers, and has the ability to form three germ layers in vivo.This MFS-specific iPSC line can be used as a cell disease model to study the pathogenesis of Marfan syndrome.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1016/j.scr.2024.103591 | DOI Listing |
Int J Mol Sci
December 2024
Department of Vascular Surgery, RWTH Aachen University Hospital, 52074 Aachen, Germany.
Thoracoabdominal aortic aneurysms (TAAAs) are rare but serious conditions characterized by dilation of the aorta characterized by remodeling of the vessel wall, with changes in the elastin and collagen content. Individuals with Marfan syndrome have a genetic predisposition for elastic fiber fragmentation and elastin degradation and are prone to early aneurysm formation and progression. Our objective was to analyze the medial collagen characteristics through histological, polarized light microscopy, and electron microscopy methods across the thoracic and abdominal aorta in twenty-five patients undergoing open surgical repair, including nine with Marfan syndrome.
View Article and Find Full Text PDFAnn Thorac Surg Short Rep
September 2024
Department of Cardiovascular Surgery, Tokyo Women's Medical University, The Heart Institute of Japan, Tokyo, Japan.
An implantable ventricular assist device became smaller and has been used for small body size patients. However, it is still challenging to determine whether it is implantable for pediatric patients. The preoperative computed tomography virtual simulation provided spatial information among the pump, intracardiac structures, and extracardiac structures, which was very useful to assess the implantability for borderline children.
View Article and Find Full Text PDFAnn Thorac Surg Short Rep
June 2024
Department of Cardiothoracic Surgery, St Francis Hospital, Roslyn, New York.
We present the case of a 72-year-old man diagnosed with an aortic root aneurysm who was then diagnosed with Marfan syndrome. The patient suffered an intraoperative type B dissection with lower extremity malperfusion managed with an axillary-bifemoral extra-anatomic bypass.
View Article and Find Full Text PDFAnn Thorac Surg Short Rep
June 2024
Division of Cardiac Surgery, Northwestern University Feinberg School of Medicine and Northwestern Medicine, Chicago, Illinois.
A 24-year-old man with Marfan syndrome and heart failure from hypertrophic cardiomyopathy was referred to our institution in cardiogenic shock for advanced therapies. He was supported by a femoral intra-aortic balloon pump, then bridged to orthotopic heart transplantation. This is a report of an orthotopic heart transplantation in a patient with both Marfan syndrome and heart failure from hypertrophic cardiomyopathy.
View Article and Find Full Text PDFOrphanet J Rare Dis
January 2025
Department of Social Work, Child Welfare and Social Policy, Faculty of Social Science, Oslo Metropolitan University, Oslo, Norway.
Introduction: The purpose of this study was to investigate perceptions and opinions on what constitutes determinants for quality of life (QoL) in individuals with syndromic Heritable Aortic Disease (sHTAD), utilizing a qualitative study approach. Further to discuss clinical implications and direction for research.
Method: A qualitative focus group interview study was conducted of 47 adults (Marfan syndrome (MFS) = 14, Loeys-Dietz syndrome (LDS) = 11, vascular Ehlers Danlos syndrome (EDS) = 11, relatives = 11).
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!