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
oleh: Giulia Sbrini, Zaira Tomasoni, Maria Rosa Cutrì, Alba Pilotta, Chiara Mingotti, Raffaele Badolato, Luca La Via, Alessandro Barbon, Federica Bono, Chiara Fiorentini
| Format: | Article |
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| Diterbitkan: | Elsevier 2024-02-01 |
Deskripsi
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.