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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.

Authors :
Sbrini G
Tomasoni Z
Cutrì MR
Pilotta A
Mingotti C
Badolato R
La Via L
Barbon A
Bono F
Fiorentini C
Source :
Stem cell research [Stem Cell Res] 2024 Feb; Vol. 74, pp. 103293. Date of Electronic Publication: 2023 Dec 28.
Publication Year :
2024

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.<br />Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.<br /> (Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.)

Details

Language :
English
ISSN :
1876-7753
Volume :
74
Database :
MEDLINE
Journal :
Stem cell research
Publication Type :
Academic Journal
Accession number :
38160629
Full Text :
https://doi.org/10.1016/j.scr.2023.103293