Your browser doesn't support javascript.
loading
Generation of two iPSC lines from vascular Ehlers-Danlos Syndrome (vEDS) patients carrying a missense mutation in COL3A1 gene.
Manhas, Amit; Tripathi, Dipti; Noishiki, Chikage; Wu, David; Liu, Lu; Sallam, Karim; Lee, Jason T; Fukaya, Eri; Sayed, Nazish.
Afiliação
  • Manhas A; 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.
  • Tripathi D; 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.
  • Noishiki C; 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.
  • Wu D; 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.
  • Liu L; 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.
  • Sallam K; Stanford Cardiovascular Institute, Stanford University School of Medicine, CA, USA; Division of Cardiovascular Medicine, Stanford University School of Medicine, CA, USA.
  • Lee JT; 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.
  • Fukaya E; Division of Vascular Surgery, Department of Surgery, Stanford University School of Medicine, CA, USA.
  • Sayed N; 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: say
Stem Cell Res ; 79: 103485, 2024 Sep.
Article em En | MEDLINE | ID: mdl-38944978
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.
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Colágeno Tipo III / Síndrome de Ehlers-Danlos / Células-Tronco Pluripotentes Induzidas Limite: Adult / Female / Humans / Male Idioma: En Ano de publicação: 2024 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Colágeno Tipo III / Síndrome de Ehlers-Danlos / Células-Tronco Pluripotentes Induzidas Limite: Adult / Female / Humans / Male Idioma: En Ano de publicação: 2024 Tipo de documento: Article