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Generation of induced pluripotent stem cell line from a patient suffering from arterial calcification due to deficiency of CD73 (ACDC). Stem cell research Tripathi, D., Manhas, A., Noishiki, C., Wu, D., Adkar, S., Sallam, K., Fukaya, E., Leeper, N. J., Sayed, N. 2023; 75: 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.1126AG,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.

View details for DOI 10.1016/j.scr.2023.103285

View details for PubMedID 38199067