Cellosaurus cell line UNIBSi018-A (CVCL

Cross-references
Cell line name	UNIBSi018-A
Synonyms	P1NS_26
Accession	CVCL_D6MS
Resource Identification Initiative	To cite this cell line use: UNIBSi018-A (RRID:CVCL_D6MS)
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_D6MT ! UNIBSi018-B
Sex of cell	Female
Age at sampling	48Y
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; UNIBSi018-A
Biological sample resources	BioSamples; SAMEA114862746
Encyclopedic resources	Wikidata; Q127384596
Entry history
Entry creation	02-May-2024
Last entry update	19-Dec-2024
Version number	3