Cellosaurus cell line UNIBSi020-A (CVCL

Cross-references
Cell line name	UNIBSi020-A
Synonyms	P3NS_306
Accession	CVCL_D6M7
Resource Identification Initiative	To cite this cell line use: UNIBSi020-A (RRID:CVCL_D6M7)
Comments	From: University of Brescia; Brescia; Italy. Population: Caucasian. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:9644; PTPN11; Simple; p.Tyr63Cys (c.188A>G); ClinVar=VCV000013333; Zygosity=Heterozygous (PubMed=38160629).
Disease	Noonan syndrome (NCIt: C34854) Noonan syndrome (ORDO: Orphanet_648)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_D6M8 ! UNIBSi020-B
Sex of cell	Female
Age at sampling	12Y
Category	Induced pluripotent stem cell
Publications	PubMed=38160629; DOI=10.1016/j.scr.2023.103293 Giulia Sbrini, Zaira Tomasoni, Maria Rosa Cutri, Alba Pilotta, Chiara Mingotti, Raffaele Badolato, Luca La Via, Alessandro Barbon, Federica Bono, Chiara Fiorentini; 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. 74:103293-103293(2024)
Cell line databases/resources	hPSCreg; UNIBSi020-A
Biological sample resources	BioSamples; SAMEA114870879
Encyclopedic resources	Wikidata; Q127384605
Entry history
Entry creation	02-May-2024
Last entry update	19-Dec-2024
Version number	3