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

•The cell line was reprogrammed from urine cells of a patient with hemophilia B.•The cell line carries a nonsense mutation site, it’s a valuable research resource.•The cell line is pluripotent and capable of three germ layer differentiation.•The cell line could be used as a disease model for investi...

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Published in:Stem cell research 2022-04, Vol.60, p.102684-102684, Article 102684
Main Authors: Ma, Yanchun, Sun, Wenwen, Liu, Xiue, Ren, Juan, Zhang, Xialin, Zhang, Ruijuan, Zhao, Lidong, Yang, Linhua, Wang, Gang
Format: Article
Language:English
Subjects:
Cell Differentiation
Cell Line
Cellular Reprogramming
Factor IX - genetics
Factor IX - metabolism
Germ Layers
Hemophilia B - genetics
Humans
Induced Pluripotent Stem Cells - metabolism
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Summary:•The cell line was reprogrammed from urine cells of a patient with hemophilia B.•The cell line carries a nonsense mutation site, it’s a valuable research resource.•The cell line is pluripotent and capable of three germ layer differentiation.•The cell line could be used as a disease model for investigating hemophilia. 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.
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2022.102684