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

被引：3
|
作者：
Ma, Yanchun [1 ]
Sun, Wenwen [1 ]
Liu, Xiue [1 ]
Ren, Juan [1 ]
Zhang, Xialin [2 ]
Zhang, Ruijuan [2 ]
Zhao, Lidong [1 ]
Yang, Linhua [1 ]
Wang, Gang [1 ]
机构：
[1] Shanxi Med Univ, Dept Hematol, Hosp 2, Taiyuan 030001, Shanxi, Peoples R China
[2] Shanxi Med Univ, Shanxi Bethune Hosp, Tongji Shanxi Hosp, Shanxi Acad Med Sci,Hosp 3,Dept Hematol, Taiyuan 030032, Shanxi, Peoples R China
来源：
STEM CELL RESEARCH | 2022年 / 60卷
关键词：
D O I：
10.1016/j.scr.2022.102684
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
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.
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页数：4
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