Generation of an integration-free induced pluripotent stem cell line, FJMAi001-A, from a Marfan syndrome patient with a heterozygous mutation c.2777G > A (p.Cys926Tyr) in FBN1
Marfan syndrome (MFS) is a heritable dominant disorder of fibrous connective tissue, caused by mutations in the gene encoding fibrillin-1 on chromosome 15. Here, we report an induced pluripotent stem cell (iPSC) line generated from a patient with MFS who carries a heterozygous mutation of c.2777G &g...
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| Format: | Article |
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Elsevier
2024-12-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506124002897 |
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| author | Ronghua Liu Guoxing Weng Fuzhen Zheng Jinyan Chen Kun Wang Junyong Han Jie Huang Licheng Yan Jingjun Jin |
| author_facet | Ronghua Liu Guoxing Weng Fuzhen Zheng Jinyan Chen Kun Wang Junyong Han Jie Huang Licheng Yan Jingjun Jin |
| author_sort | Ronghua Liu |
| collection | DOAJ |
| description | Marfan syndrome (MFS) is a heritable dominant disorder of fibrous connective tissue, caused by mutations in the gene encoding fibrillin-1 on chromosome 15. Here, we report an induced pluripotent stem cell (iPSC) line generated from a patient with MFS who carries a heterozygous mutation of c.2777G > A(p.Cys926Tyr) in the FBN1 gene using an episomal method. The hiPS-MFS cell line has normal karyotype, expresses pluripotency markers, and has the ability to form three germ layers in vivo.This MFS-specific iPSC line can be used as a cell disease model to study the pathogenesis of Marfan syndrome. |
| format | Article |
| id | doaj-art-6bbfe0958c034a28af4e581afe5b5830 |
| institution | DOAJ |
| issn | 1873-5061 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj-art-6bbfe0958c034a28af4e581afe5b58302025-08-20T02:49:53ZengElsevierStem Cell Research1873-50612024-12-018110359110.1016/j.scr.2024.103591Generation of an integration-free induced pluripotent stem cell line, FJMAi001-A, from a Marfan syndrome patient with a heterozygous mutation c.2777G > A (p.Cys926Tyr) in FBN1Ronghua Liu0Guoxing Weng1Fuzhen Zheng2Jinyan Chen3Kun Wang4Junyong Han5Jie Huang6Licheng Yan7Jingjun Jin8Fujian Key Laboratory of Medical Analysis, Fujian Academy of Medical Sciences, Fuzhou 350001, ChinaShengli Clinical Medical College of Fujian Medical University, Fuzhou 350001, ChinaShengli Clinical Medical College of Fujian Medical University, Fuzhou 350001, ChinaFujian Key Laboratory of Medical Analysis, Fujian Academy of Medical Sciences, Fuzhou 350001, ChinaFujian Key Laboratory of Medical Analysis, Fujian Academy of Medical Sciences, Fuzhou 350001, ChinaFujian Key Laboratory of Medical Analysis, Fujian Academy of Medical Sciences, Fuzhou 350001, ChinaShengli Clinical Medical College of Fujian Medical University, Fuzhou 350001, ChinaShengli Clinical Medical College of Fujian Medical University, Fuzhou 350001, ChinaFujian Key Laboratory of Medical Analysis, Fujian Academy of Medical Sciences, Fuzhou 350001, China; Corresponding authors.Marfan syndrome (MFS) is a heritable dominant disorder of fibrous connective tissue, caused by mutations in the gene encoding fibrillin-1 on chromosome 15. Here, we report an induced pluripotent stem cell (iPSC) line generated from a patient with MFS who carries a heterozygous mutation of c.2777G > A(p.Cys926Tyr) in the FBN1 gene using an episomal method. The hiPS-MFS cell line has normal karyotype, expresses pluripotency markers, and has the ability to form three germ layers in vivo.This MFS-specific iPSC line can be used as a cell disease model to study the pathogenesis of Marfan syndrome.http://www.sciencedirect.com/science/article/pii/S1873506124002897 |
| spellingShingle | Ronghua Liu Guoxing Weng Fuzhen Zheng Jinyan Chen Kun Wang Junyong Han Jie Huang Licheng Yan Jingjun Jin Generation of an integration-free induced pluripotent stem cell line, FJMAi001-A, from a Marfan syndrome patient with a heterozygous mutation c.2777G > A (p.Cys926Tyr) in FBN1 Stem Cell Research |
| title | Generation of an integration-free induced pluripotent stem cell line, FJMAi001-A, from a Marfan syndrome patient with a heterozygous mutation c.2777G > A (p.Cys926Tyr) in FBN1 |
| title_full | Generation of an integration-free induced pluripotent stem cell line, FJMAi001-A, from a Marfan syndrome patient with a heterozygous mutation c.2777G > A (p.Cys926Tyr) in FBN1 |
| title_fullStr | Generation of an integration-free induced pluripotent stem cell line, FJMAi001-A, from a Marfan syndrome patient with a heterozygous mutation c.2777G > A (p.Cys926Tyr) in FBN1 |
| title_full_unstemmed | Generation of an integration-free induced pluripotent stem cell line, FJMAi001-A, from a Marfan syndrome patient with a heterozygous mutation c.2777G > A (p.Cys926Tyr) in FBN1 |
| title_short | Generation of an integration-free induced pluripotent stem cell line, FJMAi001-A, from a Marfan syndrome patient with a heterozygous mutation c.2777G > A (p.Cys926Tyr) in FBN1 |
| title_sort | generation of an integration free induced pluripotent stem cell line fjmai001 a from a marfan syndrome patient with a heterozygous mutation c 2777g a p cys926tyr in fbn1 |
| url | http://www.sciencedirect.com/science/article/pii/S1873506124002897 |
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