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
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. Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Sbrini G, Tomasoni Z, Cutrì MR, Pilotta A, Mingotti C, Badolato R, La Via L, Barbon A, Bono F, Fiorentini C |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Feb;74:103293 |
| PubMed | 38160629 |
| DOI | 10.1016/j.scr.2023.103293 |