Generation of a human iPSC line ZZUNEUi014-A from a patient with antithrombin deficiency caused by mutation in SERPINC1 gene


Inherited antithrombin (AT) deficiency is an autosomal dominant disorder associated with SERPINC1 mutations. In this study, we generated a human induced pluripotent stem cell (iPSC) line ZZUNEUi014-A from peripheral blood mononuclear cells of a female AT deficiency patient with the p. W27X (c. 80G > A) mutation in SERPINC1. This cell line expressed pluripotency markers, showed normal female karyotype and could differentiate into all three germ layers in vitro. Copyright © 2021. Published by Elsevier B.V.

Authors Hong J, Xing J, Li P, Liu M, Zhu J, Li L, Li X, Dong J
Journal Stem cell research
Publication Date 2022 Mar;59:102646
PubMed 34973562
DOI 10.1016/j.scr.2021.102646

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