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Cellosaurus UNIBSi019-B (CVCL_D6M6)

[Text version]
Cell line name UNIBSi019-B
Synonyms P2NS_222
Accession CVCL_D6M6
Resource Identification Initiative To cite this cell line use: UNIBSi019-B (RRID:CVCL_D6M6)
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_D6M5 ! UNIBSi019-A
Sex of cell Male
Age at sampling 17Y
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; UNIBSi019-B
Biological sample resources BioSamples; SAMEA114863484
Encyclopedic resources Wikidata; Q127384603
Entry history
Entry creation02-May-2024
Last entry update10-Sep-2024
Version number2