Generation of human induced pluripotent stem cell lines derived from three Noonan syndrome patients from a single family carrying the heterozygous PTPN11 c.188 A > G (p.Y63C) mutation

We have established Noonan syndrome (NS)-derived induced pluripotent stem cell (iPSC) lines derived from peripheral blood mononuclear cells (PBMCs) of a family cohort carrying the heterozygous PTPN11 c.188 A > G (p.Y63C) mutation. The new iPSC lines were validated by confirming the normal karyoty...

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Published in:Stem cell research 2024-02, Vol.74, p.103293-103293, Article 103293
Main Authors: Sbrini, Giulia, Tomasoni, Zaira, Cutrì, Maria Rosa, Pilotta, Alba, Mingotti, Chiara, Badolato, Raffaele, La Via, Luca, Barbon, Alessandro, Bono, Federica, Fiorentini, Chiara
Format: Article
Language:English
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Summary:We have established Noonan syndrome (NS)-derived induced pluripotent stem cell (iPSC) lines derived from peripheral blood mononuclear cells (PBMCs) of a family cohort carrying the heterozygous PTPN11 c.188 A > G (p.Y63C) mutation. The new iPSC lines were validated by confirming the normal karyotype and targeted mutation, the pluripotent gene expression, and the differentiation capacity into three germ layers.
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2023.103293