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Academic Journal
Generation of a human iPSC line ZZUNEUi014-A from a patient with antithrombin deficiency caused by mutation in SERPINC1 gene
Jin Hong, Junhui Xing, Pengcheng Li, Mengduan Liu, Jifa Zhu, Ling Li, Xiaowei Li, Jianzeng Dong
Stem Cell Research, Vol 59, Iss , Pp 102646- (2022)
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| Title | Generation of a human iPSC line ZZUNEUi014-A from a patient with antithrombin deficiency caused by mutation in SERPINC1 gene |
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| Authors | Jin Hong, Junhui Xing, Pengcheng Li, Mengduan Liu, Jifa Zhu, Ling Li, Xiaowei Li, Jianzeng Dong |
| Publication Year |
2022
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| Source |
Stem Cell Research, Vol 59, Iss , Pp 102646- (2022)
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| Description |
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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| Document Type |
article
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| Language |
English
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| Publisher Information |
Elsevier, 2022.
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| Subject Terms | |
