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