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Generation of induced pluripotent stem cell line from a patient suffering from arterial calcification due to deficiency of CD73 (ACDC).
Tripathi, Dipti; Manhas, Amit; Noishiki, Chikage; Wu, David; Adkar, Shaunak; Sallam, Karim; Fukaya, Eri; Leeper, Nicholas J; Sayed, Nazish.
Affiliation
  • Tripathi D; Baszucki Family Vascular Surgery Biobank, Stanford University School of Medicine, CA, USA; Division of Vascular Surgery, Department of Surgery, Stanford University School of Medicine, CA, USA.
  • Manhas A; Stanford Cardiovascular Institute, Stanford University School of Medicine, CA, USA; Division of Cardiovascular Medicine, Stanford University School of Medicine, CA, USA.
  • Noishiki C; Division of Vascular Surgery, Department of Surgery, Stanford University School of Medicine, CA, USA; Stanford Cardiovascular Institute, Stanford University School of Medicine, CA, USA.
  • Wu D; Division of Vascular Surgery, Department of Surgery, Stanford University School of Medicine, CA, USA; Stanford Cardiovascular Institute, Stanford University School of Medicine, CA, USA.
  • Adkar S; Baszucki Family Vascular Surgery Biobank, Stanford University School of Medicine, CA, USA; Division of Vascular Surgery, Department of Surgery, Stanford University School of Medicine, CA, USA; Stanford Cardiovascular Institute, 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.
  • Fukaya E; Division of Vascular Surgery, Department of Surgery, Stanford University School of Medicine, CA, USA.
  • Leeper NJ; Division of Vascular Surgery, Department of Surgery, 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.
  • Sayed N; Baszucki Family Vascular Surgery Biobank, Stanford University School of Medicine, CA, USA; Division of Vascular Surgery, Department of Surgery, Stanford University School of Medicine, CA, USA; Stanford Cardiovascular Institute, Stanford University School of Medicine, CA, USA. Electronic address: say
Stem Cell Res ; 75: 103285, 2024 Mar.
Article in En | MEDLINE | ID: mdl-38199067
ABSTRACT
Arterial calcification due to deficiency of CD73 (ACDC) is an adult onset, rare genetic vascular disorder signified by calcium deposition in lower extremity arteries and joints of hands and feet. Mutations in NT5E gene has been shown to be responsible for the inactivation of enzyme CD73 causing calcium buildup. Here, we report a iPSC line generated from a patient showing signs of ACDC and carrying a missense mutation in NT5E (c.1126A→G,p.T376A) gene. This iPSC line shows normal morphology, pluripotency, karyotype, and capability to differentiate into three germ layers, making it useful for disease modeling and investigating pathological mechanisms of ACDC.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Vascular Diseases / Calcinosis / Induced Pluripotent Stem Cells / Joint Diseases Type of study: Prognostic_studies Limits: Adult / Humans Language: En Journal: Stem Cell Res Year: 2024 Document type: Article
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Vascular Diseases / Calcinosis / Induced Pluripotent Stem Cells / Joint Diseases Type of study: Prognostic_studies Limits: Adult / Humans Language: En Journal: Stem Cell Res Year: 2024 Document type: Article