Article
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.
Stem cell research - 1 Feb 2024
Sbrini Giulia, Tomasoni Zaira, Cutrì Maria Rosa, Pilotta Alba, Mingotti Chiara, Badolato Raffaele, La Via Luca, Barbon Alessandro, Bono Federica, Fiorentini Chiara
Abstract excerpt
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.
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