Human induced pluripotent stem cells derived from a patient with a mutation of SERPINC1 c.236G>A (p.R79H)
Summary
Mutation of SERPINC1 is related to the incidence of Inherited antithrombin (AT) deficiency. In this study, we generated a human induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a patient with a mutation of SERPINC1 c.236G>A (p.R79H). The generated iPSCs express pluripotent cell markers with no mycoplasma contamination. Besides, it has a normal female karyotype and could differentiate into all three germ layers in vitro. Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.
Authors | Chen W, Wang Y, Shen L, Huang S, Yang X, Wu D |
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Journal | Stem cell research |
Publication Date | 2023 Sep;71:103150 |
PubMed | 37385134 |
DOI | 10.1016/j.scr.2023.103150 |