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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.
Van Den Heuvel, Lotte J F; Peeters, Silke; Meester, Josephina A N; Perik, Melanie; Coucke, Paul; Loeys, Bart L.
Afiliação
  • Van Den Heuvel LJF; 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.
  • Peeters S; Center for Medical Genetics Antwerp, University of Antwerp, Antwerp University Hospital, Antwerp, Belgium.
  • Meester JAN; Center for Medical Genetics Antwerp, University of Antwerp, Antwerp University Hospital, Antwerp, Belgium.
  • Perik M; Center for Medical Genetics Antwerp, University of Antwerp, Antwerp University Hospital, Antwerp, Belgium.
  • Coucke P; Center for Medical Genetics Ghent, University of Ghent, Ghent University Hospital, Ghent, Belgium.
  • Loeys BL; Center for Medical Genetics Antwerp, University of Antwerp, Antwerp University Hospital, Antwerp, Belgium.
Stem Cell Res ; 67: 103032, 2023 03.
Article em En | MEDLINE | ID: mdl-36708686
ABSTRACT
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Células-Tronco Pluripotentes Induzidas / Síndrome de Marfan Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Células-Tronco Pluripotentes Induzidas / Síndrome de Marfan Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article