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Cellosaurus UNIBSi020-A (CVCL_D6M7)

[Text version]
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; 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)

Cross-references
Cell line databases/resources hPSCreg; UNIBSi020-A
Biological sample resources BioSamples; SAMEA114870879
Encyclopedic resources Wikidata; Q127384605
Entry history
Entry creation02-May-2024
Last entry update10-Sep-2024
Version number2