期刊
STEM CELL RESEARCH
卷 65, 期 -, 页码 -出版社
ELSEVIER
DOI: 10.1016/j.scr.2022.102964
关键词
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资金
- Siriraj Foundation
- Faculty of Medicine Siriraj Hospital, Mahidol University, Thailand
- Chuan Ratanarak Foundation
- [D1671]
In this study, researchers generated a human-induced pluripotent stem cell line, MUi032-A, from the hematopoietic stem/progenitor cells of a male CHM patient. This cell line can be used for studying disease mechanisms and gene therapy.
Choroideremia (CHM) is a monogenic, X-linked inherited retinal disease caused by mutations in the CHM gene. CHM patients develop progressive loss of vision due to degeneration of cell layers in the retina. In this report, the human-induced pluripotent stem cell, MUi032-A, was generated from CD34+ hematopoietic stem/progenitor cells of a male CHM patient by co-electroporation of non-integration episomal vectors containing OCT4/shp53, Sox-2/KLF4, and L-MYC/LIN-28. The MUi032-A showed normal karyotype and a hemizygous c.715C > T mutation. They expressed pluripotency markers and differentiated into cells derived from three germ layers. This cell line may be useful for disease mechanisms and gene therapy studies.
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