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

Yanchun Ma; Wenwen Sun; Xiue Liu; Juan Ren; Xialin Zhang; Ruijuan Zhang; Lidong Zhao; Linhua Yang; Gang Wang

Stem Cell Research (Apr 2022)

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

Yanchun Ma,
Wenwen Sun,
Xiue Liu,
Juan Ren,
Xialin Zhang,
Ruijuan Zhang,
Lidong Zhao,
Linhua Yang,
Gang Wang

Affiliations

Yanchun Ma: Department of Hematology, The Second Hospital of Shanxi Medical University, Taiyuan, Shanxi Province 030001, China
Wenwen Sun: Department of Hematology, The Second Hospital of Shanxi Medical University, Taiyuan, Shanxi Province 030001, China
Xiue Liu: Department of Hematology, The Second Hospital of Shanxi Medical University, Taiyuan, Shanxi Province 030001, China
Juan Ren: Department of Hematology, The Second Hospital of Shanxi Medical University, Taiyuan, Shanxi Province 030001, China
Xialin Zhang: Department of Hematology, Shanxi Bethune Hospital, Shanxi Academy of Medical Sciences, Tongji Shanxi Hospital, Third Hospital of Shanxi Medical University, Taiyuan, Shanxi Province 030032, China
Ruijuan Zhang: Department of Hematology, Shanxi Bethune Hospital, Shanxi Academy of Medical Sciences, Tongji Shanxi Hospital, Third Hospital of Shanxi Medical University, Taiyuan, Shanxi Province 030032, China
Lidong Zhao: Department of Hematology, The Second Hospital of Shanxi Medical University, Taiyuan, Shanxi Province 030001, China
Linhua Yang: Department of Hematology, The Second Hospital of Shanxi Medical University, Taiyuan, Shanxi Province 030001, China; Corresponding authors.
Gang Wang: Department of Hematology, The Second Hospital of Shanxi Medical University, Taiyuan, Shanxi Province 030001, China; Corresponding authors.

Journal volume & issue: Vol. 60
p. 102684

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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