CRISPR/Cas9 gene correction of HbH-CS thalassemia-induced pluripotent stem cells
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Published:2019-09-09
Issue:12
Volume:98
Page:2661-2671
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ISSN:0939-5555
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Container-title:Annals of Hematology
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language:en
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Short-container-title:Ann Hematol
Author:
Yingjun Xie, Yuhuan Xie, Yuchang Chen, Dongzhi Li, Ding Wang, Bing Song, Yi Yang, Dian Lu, Yanting Xue, Zeyu Xiong, Nengqing Liu, Diyu Chen, Xiaofang SunORCID
Abstract
Abstract
Haemoglobin (Hb) H-constant spring (CS) alpha thalassaemia (- -/-αCS) is the most common type of nondeletional Hb H disease in southern China. The CRISPR/Cas9-based gene correction of patient-specific induced pluripotent stem cells (iPSCs) and cell transplantation now represent a therapeutic solution for this genetic disease. We designed primers for the target sites using CRISPR/Cas9 to specifically edit the HBA2 gene with an Hb-CS mutation. After applying a correction-specific PCR assay to purify the corrected clones followed by sequencing to confirm the mutation correction, we verified that the purified clones retained full pluripotency and exhibited a normal karyotype. This strategy may be promising in the future, although it is far from representing a solution for the treatment of HbH-CS thalassemia now.
Funder
National Natural Science Foundation of China Foundation of Guangzhou Science and Technology Commission Natural Science Foundation of Guangdong Province Guangdong Province Science and Technology Project Youth Project by Education of Guangdong Province
Publisher
Springer Science and Business Media LLC
Subject
Hematology,General Medicine
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