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

Stem Cell Research (Feb 2024)

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

Affiliations

Giulia Sbrini: Department of, Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy
Zaira Tomasoni: Department of, Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy
Maria Rosa Cutrì: 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
Alba Pilotta: 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
Chiara Mingotti: 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
Raffaele Badolato: 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
Luca La Via: Department of, Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy
Alessandro Barbon: Department of, Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy
Federica Bono: Department of, Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy; Corresponding author.
Chiara Fiorentini: Department of, Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy

Journal volume & issue: Vol. 74
p. 103293

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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