Generation of an induced pluripotent stem cell (iPSC) line of a Marfan syndrome patient with a pathogenic FBN1 c.5372G > A (p.Cys1791Tyr) variant
Marfan syndrome (MFS) is a connective tissue disorder with pleiotropic manifestations in the ocular, skeletal and cardiovascular system. Ruptured aortic aneurysms in MFS patients are associated with high mortality rates. MFS is typically caused by pathogenic variants in the fibrillin-1 (FBN1) gene....
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2023-04-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506123000363 |