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

Stem Cell Res. 2024 Feb:74:103293. doi: 10.1016/j.scr.2023.103293. Epub 2023 Dec 28.

Affiliations

¹ Department of, Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.
² Paediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, ASST- Spedali Civili of Brescia, University of Brescia, Brescia, Italy.
³ Department of, Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy. Electronic address: Federica.bono@unibs.it.

PMID: 38160629
DOI: 10.1016/j.scr.2023.103293

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.

MeSH terms

Heterozygote
Humans
Induced Pluripotent Stem Cells* / metabolism
Leukocytes, Mononuclear
Mutation / genetics
Noonan Syndrome* / genetics
Noonan Syndrome* / metabolism
Protein Tyrosine Phosphatase, Non-Receptor Type 11 / genetics

Substances

PTPN11 protein, human
Protein Tyrosine Phosphatase, Non-Receptor Type 11