Generation of a DMD loss-of-function mutant human embryonic stem cell lines by CRISPR base editing
Duchenne muscular dystrophy (DMD) is a fatal X-linked recessive disorder, which is caused mostly by frame-disrupting, out-of-frame variation in the dystrophin (DMD) gene. Loss-of- function mutations are the most common type of mutation in DMD, accounting for approximately 60–90% of all DMD variation...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2024-04-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506124000412 |
| _version_ | 1797287674842710016 |
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| author | Hui Jin Hong Fu Jingjing Wang Zhongming Wang Jing Liu Fengjie Han Haijun Zheng Youxu Jiang |
| author_facet | Hui Jin Hong Fu Jingjing Wang Zhongming Wang Jing Liu Fengjie Han Haijun Zheng Youxu Jiang |
| author_sort | Hui Jin |
| collection | DOAJ |
| description | Duchenne muscular dystrophy (DMD) is a fatal X-linked recessive disorder, which is caused mostly by frame-disrupting, out-of-frame variation in the dystrophin (DMD) gene. Loss-of- function mutations are the most common type of mutation in DMD, accounting for approximately 60–90% of all DMD variations. In this study, we used adenine base editing to generate a human embryonic stem cell line with splice-site mutations to mimic exon deletion variants in clinical Duchenne muscular dystrophy patients. This cell line has differentiation potential and a normal karyotypic. |
| first_indexed | 2024-03-07T18:36:45Z |
| format | Article |
| id | doaj.art-fa4a7f4a536548cfb4d76ca37b655973 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-03-07T18:36:45Z |
| publishDate | 2024-04-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-fa4a7f4a536548cfb4d76ca37b6559732024-03-02T04:53:53ZengElsevierStem Cell Research1873-50612024-04-0176103343Generation of a DMD loss-of-function mutant human embryonic stem cell lines by CRISPR base editingHui Jin0Hong Fu1Jingjing Wang2Zhongming Wang3Jing Liu4Fengjie Han5Haijun Zheng6Youxu Jiang7Department of Cardiology, Jiaozuo People's Hospital, Jiaozuo 454000, ChinaDepartment of Cardiology, Jiaozuo People's Hospital, Jiaozuo 454000, ChinaDepartment of Cardiology, Jiaozuo People's Hospital, Jiaozuo 454000, ChinaDepartment of Cardiology, Jiaozuo People's Hospital, Jiaozuo 454000, ChinaDepartment of Cardiology, Jiaozuo People's Hospital, Jiaozuo 454000, ChinaDepartment of Cardiology, Jiaozuo People's Hospital, Jiaozuo 454000, ChinaDepartment of Cardiology, Jiaozuo People's Hospital, Jiaozuo 454000, China; Corresponding authors.Department of Cardiology, The Second Affiliated Hospital of Zhengzhou University, Zhengzhou 450000, China; Corresponding authors.Duchenne muscular dystrophy (DMD) is a fatal X-linked recessive disorder, which is caused mostly by frame-disrupting, out-of-frame variation in the dystrophin (DMD) gene. Loss-of- function mutations are the most common type of mutation in DMD, accounting for approximately 60–90% of all DMD variations. In this study, we used adenine base editing to generate a human embryonic stem cell line with splice-site mutations to mimic exon deletion variants in clinical Duchenne muscular dystrophy patients. This cell line has differentiation potential and a normal karyotypic.http://www.sciencedirect.com/science/article/pii/S1873506124000412 |
| spellingShingle | Hui Jin Hong Fu Jingjing Wang Zhongming Wang Jing Liu Fengjie Han Haijun Zheng Youxu Jiang Generation of a DMD loss-of-function mutant human embryonic stem cell lines by CRISPR base editing Stem Cell Research |
| title | Generation of a DMD loss-of-function mutant human embryonic stem cell lines by CRISPR base editing |
| title_full | Generation of a DMD loss-of-function mutant human embryonic stem cell lines by CRISPR base editing |
| title_fullStr | Generation of a DMD loss-of-function mutant human embryonic stem cell lines by CRISPR base editing |
| title_full_unstemmed | Generation of a DMD loss-of-function mutant human embryonic stem cell lines by CRISPR base editing |
| title_short | Generation of a DMD loss-of-function mutant human embryonic stem cell lines by CRISPR base editing |
| title_sort | generation of a dmd loss of function mutant human embryonic stem cell lines by crispr base editing |
| url | http://www.sciencedirect.com/science/article/pii/S1873506124000412 |
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