Generation an induced pluripotent stem cell line SXMUi001-A derived from a hemophilia B patient carries variant F9 c.223C＞T(p.R75X).

Yanchun Ma, Wenwen Sun, Xiue Liu, Juan Ren, Xialin Zhang, Ruijuan Zhang, Lidong Zhao, Linhua Yang, Gang Wang

Stem cell research 2022 Apr

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Hemophilia B (HB) is an X chromosome-linked recessive disorder caused by a quantitative or qualitative defect of coagulation zymogen factor IX. In this study, urine cells were collected from a patient with HB who carries variant F9 c.223C > T (p.R75X), and reprogrammed into induced pluripotent stem cells (iPSCs) using the reprogramming factors, OCT4, SOX2, m-MYC, and KLF4. The HB-iPSC line (SXMUi001-A) has characteristics similar to human embryonic stem cell, namely, pluripotency and the potential to differentiate into three germ layers. This cell line can be used as a disease model for exploring the molecular mechanism and readthrough treatment of HB. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.

Citation

Yanchun Ma, Wenwen Sun, Xiue Liu, Juan Ren, Xialin Zhang, Ruijuan Zhang, Lidong Zhao, Linhua Yang, Gang Wang. Generation an induced pluripotent stem cell line SXMUi001-A derived from a hemophilia B patient carries variant F9 c.223C＞T(p.R75X). Stem cell research. 2022 Apr;60:102684