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

从因缺乏 CD73 (ACDC) 而导致动脉钙化的患者体内生成诱导性多能干细胞系

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

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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