Generation an induced pluripotent stem cell line SXMUi001-A derived from a hemophilia B patient carries variant F9 c.223C＞T(p.R75X)
Summary
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.
| Authors | Ma Y, Sun W, Liu X, Ren J, Zhang X, Zhang R, Zhao L, Yang L, Wang G |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2022 Apr;60:102684 |
| PubMed | 35121195 |
| DOI | 10.1016/j.scr.2022.102684 |