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Article

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

Stem cell research - 1 Mar 2024

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

Abstract excerpt

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...

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Identifiers

PMID: 38199067
DOI: 10.1016/j.scr.2023.103285
PMCID: PMC11164231

Genes

NT5E

Variants

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