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
PubMed 35121195
DOI 10.1016/j.scr.2022.102684

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