Abstract

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.

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