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

• Published in: Stem cell research Vol. 75; p. 103285
• Main Authors: Tripathi, Dipti, Manhas, Amit, Noishiki, Chikage, Wu, David, Adkar, Shaunak, Sallam, Karim, Fukaya, Eri, Leeper, Nicholas J., Sayed, Nazish
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.03.2024; Elsevier
• Subjects: Adult; Arterial calcification due to deficiency of CD73; Calcinosis - genetics; Calcium; Humans; Induced Pluripotent Stem Cells; Joint Diseases; Mutation; NT5E; Vascular Diseases; Arterial calcification due to deficiency of CD73; Induced pluripotent stem cells; NT5E
• ISSN: 1873-5061; 1876-7753
• DOI: 10.1016/j.scr.2023.103285

•A iPSC line was generated from Arterial calcification due to deficiency of CD73 patient.•This iPSC line carries mutation in the NT5E gene (missense).•This iPSC line showed a normal karyotype and high pluripotency.•This iPSC line can provide a tool for modeling ACDC in vitro. 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.