ID   UNIBSi018-A
AC   CVCL_D6MS
SY   P1NS_26
DR   BioSamples; SAMEA114862746
DR   hPSCreg; UNIBSi018-A
DR   Wikidata; Q127384596
RX   PubMed=38160629;
CC   From: University of Brescia; Brescia; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; 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_D6MT ! UNIBSi018-B
SX   Female
AG   48Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-09-24; Version: 2
//
RX   PubMed=38160629; DOI=10.1016/j.scr.2023.103293;
RA   Sbrini G., Tomasoni Z., Cutri M.R., Pilotta A., Mingotti C.,
RA   Badolato R., La Via L., Barbon A., Bono F., Fiorentini C.;
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).
//