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

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

Stem Cell Research (Mar 2023)

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

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

Affiliations

Lotte J.F. Van Den Heuvel: Center for Medical Genetics Antwerp, University of Antwerp, Antwerp University Hospital, Antwerp, Belgium; Center for Medical Genetics Ghent, University of Ghent, Ghent University Hospital, Ghent, Belgium
Silke Peeters: Center for Medical Genetics Antwerp, University of Antwerp, Antwerp University Hospital, Antwerp, Belgium
Josephina A.N. Meester: Center for Medical Genetics Antwerp, University of Antwerp, Antwerp University Hospital, Antwerp, Belgium
Melanie Perik: Center for Medical Genetics Antwerp, University of Antwerp, Antwerp University Hospital, Antwerp, Belgium
Paul Coucke: Center for Medical Genetics Ghent, University of Ghent, Ghent University Hospital, Ghent, Belgium
Bart L. Loeys: Center for Medical Genetics Antwerp, University of Antwerp, Antwerp University Hospital, Antwerp, Belgium; Corresponding author.

Journal volume & issue: Vol. 67
p. 103032

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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