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
; 74: 103293, 2024 02.
Article
in 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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Induced Pluripotent Stem Cells
/
Noonan Syndrome
Limits:
Humans
Language:
En
Journal:
Stem Cell Res
Year:
2024
Document type:
Article
Affiliation country:
Italy
Country of publication:
United kingdom