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


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) and after reprogramming the line showed a no relevant copy number alterations, expression of pluripotency markers and was able to differentiate into three germ layers while carrying the original genotype. Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Van Den Heuvel LJF, Peeters S, Meester JAN, Perik M, Coucke P, Loeys BL
Journal Stem cell research
Publication Date 2023 Mar;67:103032
PubMed 36708686
DOI 10.1016/j.scr.2023.103032

Research Projects

Cell Lines