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A generated induced pluripotent stem cell (iPSC) line (CMGANTi005-A) of a Marfan syndrome patient with an FBN1 c.7754T > C (p.Ile2585Thr) variation.

Stem cell research - 1 Mar 2023

Van Den Heuvel Lotte J F, Peeters Silke, Meester Josephina A N, Perik Melanie, Coucke Paul, Loeys Bart L

Abstract excerpt

Marfan syndrome (MFS) is a connective tissue disorder with pleiotropic manifestations in the ocular, skeletal and cardiovascular system; and is typically cause by pathogenic variants in the fibrillin-1 (FBN1) gene. We report a generated induced pluripotent cell (iPSC) line of a MFS patient with an FBN1 c.7754T > C (p.Ile2585Thr) variant. The cell line was generated from peripheral blood mononuclear cells (PBMCs)...

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PMID: 36708686
DOI: 10.1016/j.scr.2023.103032

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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A generated induced pluripotent stem cell (iPSC) line (CMGANTi005-A) of a Marfan syndrome patient with an FBN1 c.7754T > C (p.Ile2585Thr) variation.PMID 36708686Read ↗

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