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 (Mar 2022)

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

Affiliations

Jin Hong: Department of Cardiology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China; Henan Key Laboratory of Hereditary Cardiovascular Diseases, Zhengzhou 450052, China
Junhui Xing: Department of Cardiology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China
Pengcheng Li: Department of Cardiology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China
Mengduan Liu: Department of Cardiology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China; Henan Key Laboratory of Hereditary Cardiovascular Diseases, Zhengzhou 450052, China
Jifa Zhu: Department of Cardiology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China
Ling Li: Department of Cardiology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China
Xiaowei Li: Department of Cardiology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China; Henan Key Laboratory of Hereditary Cardiovascular Diseases, Zhengzhou 450052, China; Corresponding authors at: The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Longhu Zhonghuan Road No. 1, Jinshui District, Zhengzhou 450052, China.
Jianzeng Dong: Department of Cardiology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China; Henan Key Laboratory of Hereditary Cardiovascular Diseases, Zhengzhou 450052, China; Department of Cardiology, Beijing Anzhen Hospital, Capital Medical University, National Clinical Research Centre for Cardiovascular Diseases, No. 2 Beijing Anzhen Road, Chaoyang District, Beijing 100029, China; Corresponding authors at: The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Longhu Zhonghuan Road No. 1, Jinshui District, Zhengzhou 450052, China.

Journal volume & issue: Vol. 59
p. 102646

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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