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

doi:10.1016/j.scr.2024.103485

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

Stem Cell Res. 2024 Sep:79:103485. doi: 10.1016/j.scr.2024.103485. Epub 2024 Jun 25.

Authors

Amit Manhas¹, Dipti Tripathi², Chikage Noishiki², David Wu², Lu Liu², Karim Sallam³, Jason T Lee², Eri Fukaya⁴, Nazish Sayed⁵

Affiliations

¹ 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.
² 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.
³ Stanford Cardiovascular Institute, Stanford University School of Medicine, CA, USA; Division of Cardiovascular Medicine, Stanford University School of Medicine, CA, USA.
⁴ Division of Vascular Surgery, Department of Surgery, Stanford University School of Medicine, CA, USA.
⁵ 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. Electronic address: sayedns@stanford.edu.

Abstract

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.

Keywords: COL3A1; Induced pluripotent stem cells; vascular Ehlers-Danlos Syndrome.

MeSH terms

Adult
Cell Line
Collagen Type III* / genetics
Collagen Type III* / metabolism
Ehlers-Danlos Syndrome* / genetics
Ehlers-Danlos Syndrome* / pathology
Ehlers-Danlos Syndrome, Type IV
Female
Humans
Induced Pluripotent Stem Cells* / metabolism
Male
Mutation, Missense*

Substances

Collagen Type III
COL3A1 protein, human

Abstract

MeSH terms

Substances

Grants and funding