Generation of induced pluripotent stem cell line from a patient suffering from arterial calcification due to deficiency of CD73 (ACDC)

Dipti Tripathi; Amit Manhas; Chikage Noishiki; David Wu; Shaunak Adkar; Karim Sallam; Eri Fukaya; Nicholas J Leeper; Nazish Sayed

doi:10.1016/j.scr.2023.103285

Generation of induced pluripotent stem cell line from a patient suffering from arterial calcification due to deficiency of CD73 (ACDC)

Stem Cell Res. 2024 Mar:75:103285. doi: 10.1016/j.scr.2023.103285. Epub 2023 Dec 19.

Authors

Dipti Tripathi¹, Amit Manhas², Chikage Noishiki³, David Wu³, Shaunak Adkar⁴, Karim Sallam², Eri Fukaya⁵, Nicholas J Leeper⁶, Nazish Sayed⁷

Affiliations

¹ 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.
² Stanford Cardiovascular Institute, Stanford University School of Medicine, CA, USA; Division of Cardiovascular Medicine, Stanford University School of Medicine, CA, USA.
³ Division of Vascular Surgery, Department of Surgery, Stanford University School of Medicine, CA, USA; Stanford Cardiovascular Institute, Stanford University School of Medicine, CA, USA.
⁴ 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.
⁵ Division of Vascular Surgery, Department of Surgery, Stanford University School of Medicine, CA, USA.
⁶ 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.
⁷ 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: sayedns@stanford.edu.

PMID: 38199067
DOI: 10.1016/j.scr.2023.103285

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.

Keywords: Arterial calcification due to deficiency of CD73; Induced pluripotent stem cells; NT5E.

MeSH terms

Adult
Calcinosis* / genetics
Calcium
Humans
Induced Pluripotent Stem Cells*
Joint Diseases*
Mutation
Vascular Diseases*

Substances

Calcium

Supplementary concepts

Calcification of Joints and Arteries