Generation of two iPSC lines from vascular Ehlers-Danlos Syndrome (vEDS) patients carrying a missense mutation in COL3A1 gene

Amit Manhas; Dipti Tripathi; Chikage Noishiki; David Wu; Lu Liu; Karim Sallam; Jason T. Lee; Eri Fukaya; Nazish Sayed

Stem Cell Research (Sep 2024)

Generation of two iPSC lines from vascular Ehlers-Danlos Syndrome (vEDS) patients carrying a missense mutation in COL3A1 gene

Amit Manhas,
Dipti Tripathi,
Chikage Noishiki,
David Wu,
Lu Liu,
Karim Sallam,
Jason T. Lee,
Eri Fukaya,
Nazish Sayed

Affiliations

Amit Manhas: Baszucki Family Vascular Surgery Biobank, Stanford University School of Medicine, CA, USA; Stanford Cardiovascular Institute, Stanford University School of Medicine, CA, USA; Division of Cardiovascular Medicine, Stanford University School of Medicine, CA, USA
Dipti Tripathi: Baszucki Family Vascular Surgery Biobank, Stanford University School of Medicine, CA, USA; Stanford Cardiovascular Institute, Stanford University School of Medicine, CA, USA; Division of Vascular Surgery, Department of Surgery, Stanford University School of Medicine, CA, USA
Chikage Noishiki: Baszucki Family Vascular Surgery Biobank, Stanford University School of Medicine, CA, USA; Stanford Cardiovascular Institute, Stanford University School of Medicine, CA, USA; Division of Vascular Surgery, Department of Surgery, Stanford University School of Medicine, CA, USA
David Wu: Baszucki Family Vascular Surgery Biobank, Stanford University School of Medicine, CA, USA; Stanford Cardiovascular Institute, Stanford University School of Medicine, CA, USA; Division of Vascular Surgery, Department of Surgery, Stanford University School of Medicine, CA, USA
Lu Liu: Baszucki Family Vascular Surgery Biobank, Stanford University School of Medicine, CA, USA; Stanford Cardiovascular Institute, Stanford University School of Medicine, CA, USA; Division of Vascular Surgery, Department of Surgery, Stanford University School of Medicine, CA, USA
Karim Sallam: Stanford Cardiovascular Institute, Stanford University School of Medicine, CA, USA; Division of Cardiovascular Medicine, Stanford University School of Medicine, CA, USA
Jason T. Lee: Baszucki Family Vascular Surgery Biobank, Stanford University School of Medicine, CA, USA; Stanford Cardiovascular Institute, Stanford University School of Medicine, CA, USA; Division of Vascular Surgery, Department of Surgery, Stanford University School of Medicine, CA, USA
Eri Fukaya: Division of Vascular Surgery, Department of Surgery, Stanford University School of Medicine, CA, USA
Nazish Sayed: Baszucki Family Vascular Surgery Biobank, Stanford University School of Medicine, CA, USA; Stanford Cardiovascular Institute, Stanford University School of Medicine, CA, USA; Division of Vascular Surgery, Department of Surgery, Stanford University School of Medicine, CA, USA; Corresponding author at: 240 Pasteur Drive, 3551 Biomedical Innovations Building, Stanford, CA 95304, USA.

Journal volume & issue: Vol. 79
p. 103485

Abstract

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Vascular Ehlers-Danlos Syndrome (vEDS) is an inherited connective tissue disorder caused by COL3A1 gene, mutations that encodes type III collagen, a crucial component of blood vessels. vEDS can be life-threatening as these patients can have severe internal bleeding due to arterial rupture. Here, we generated induced pluripotent stem cell (iPSC) lines from two vEDS patients carrying a missense mutation in the COL3A1 (c.226A > G, p.Asn76Asp) gene. These lines exhibited typical iPSC characteristics including morphology, expression of pluripotency markers, and could differentiate to all three germ layer. These iPSC lines can serve as valuable tools for elucidating the pathophysiology underlying vEDS.

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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