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

Giulia Sbrini,Zaira Tomasoni,Maria Rosa Cutrì,Alba Pilotta,Chiara Mingotti,Raffaele Badolato,Luca La Via,Alessandro Barbon,Federica Bono,Chiara Fiorentini

doi:10.1016/j.scr.2023.103293

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

Giulia Sbrini, Zaira Tomasoni + Show 8 more

Open Access

https://doi.org/10.1016/j.scr.2023.103293

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Journal: Stem Cell Research	Publication Date: Dec 28, 2023
Citations: 1	License type: cc-by-nc-nd

Affiliation: University of Brescia

#Induced Pluripotent Stem Cell Lines #iPSC Lines + Show 8 more

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Abstract

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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