Generation of a human iPSC line ZZUNEUi014-A from a patient with antithrombin deficiency caused by mutation in SERPINC1 gene
Jin Tae Hong, Junhui Xing, Pengcheng Li, Mengduan Liu, Jifa Zhu, Ling Li, Xiaowei Li, Jianzeng Dong
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.
Topics & Concepts
BiologyInduced pluripotent stem cellGerm layerMutationPeripheral blood mononuclear cellAntithrombinKaryotypeGeneGeneticsEndocrinologyCell cultureHuman geneticsInternal medicineIn vitroImmunologyChromosomeHeparinEmbryonic stem cellBiochemistryMedicineCancer-related gene regulation