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 F...

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Veröffentlicht in:	Stem cell research 2023-03, Vol.67, p.103032-103032, Article 103032
Hauptverfasser:	Van Den Heuvel, Lotte J.F., Peeters, Silke, Meester, Josephina A.N., Perik, Melanie, Coucke, Paul, Loeys, Bart L.
Format:	Artikel
Sprache:	eng
Schlagworte:	Fibrillin-1 - genetics Humans Induced Pluripotent Stem Cells - metabolism Leukocytes, Mononuclear - metabolism Marfan Syndrome - genetics Mutation
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Zusammenfassung:	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.
ISSN:	1873-5061 1876-7753
DOI:	10.1016/j.scr.2023.103032