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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.
Sbrini, Giulia; Tomasoni, Zaira; Cutrì, Maria Rosa; Pilotta, Alba; Mingotti, Chiara; Badolato, Raffaele; La Via, Luca; Barbon, Alessandro; Bono, Federica; Fiorentini, Chiara.
Afiliación
  • Sbrini G; Department of, Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.
  • Tomasoni Z; Department of, Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.
  • Cutrì MR; 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.
  • Pilotta A; 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.
  • Mingotti C; 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.
  • Badolato R; 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.
  • La Via L; Department of, Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.
  • Barbon A; Department of, Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.
  • Bono F; Department of, Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy. Electronic address: Federica.bono@unibs.it.
  • Fiorentini C; Department of, Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.
Stem Cell Res ; 74: 103293, 2024 02.
Article en En | MEDLINE | ID: mdl-38160629
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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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Células Madre Pluripotentes Inducidas / Síndrome de Noonan Límite: Humans Idioma: En Revista: Stem Cell Res Año: 2024 Tipo del documento: Article País de afiliación: Italia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Células Madre Pluripotentes Inducidas / Síndrome de Noonan Límite: Humans Idioma: En Revista: Stem Cell Res Año: 2024 Tipo del documento: Article País de afiliación: Italia