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 Sbrini G., Tomasoni Z., Cutri M.R., Pilotta A., Mingotti C., Badolato R., La Via L., Barbon A., Bono F., Fiorentini C. 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