ID   UNIBSi020-A
AC   CVCL_D6M7
SY   P3NS_306
DR   BioSamples; SAMEA114870879
DR   hPSCreg; UNIBSi020-A
DR   Wikidata; Q127384605
RX   PubMed=38160629;
CC   From: University of Brescia; Brescia; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:9644; PTPN11; Simple; p.Tyr63Cys (c.188A>G); ClinVar=VCV000013333; Zygosity=Heterozygous (PubMed=38160629).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C34854; Noonan syndrome
DI   ORDO; Orphanet_648; Noonan syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_D6M8 ! UNIBSi020-B
SX   Female
AG   12Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 19-12-24; Version: 3
//
RX   PubMed=38160629; DOI=10.1016/j.scr.2023.103293;
RA   Sbrini, Giulia
RA   Tomasoni, Zaira
RA   Cutri, Maria Rosa
RA   Pilotta, Alba
RA   Mingotti, Chiara
RA   Badolato, Raffaele
RA   La Via, Luca
RA   Barbon, Alessandro
RA   Bono, Federica
RA   Fiorentini, Chiara
RT   "Generation of human induced pluripotent stem cell lines derived from
RT   three Noonan syndrome patients from a single family carrying the
RT   heterozygous PTPN11 c.188 A > G (p.Y63C) mutation.";
RL   Stem Cell Res. 74:103293-103293(2024).
//