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Cellosaurus UNIBSi018-A (CVCL_D6MS)

[Text version]
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; 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)

Cross-references
Cell line databases/resources hPSCreg; UNIBSi018-A
Biological sample resources BioSamples; SAMEA114862746
Encyclopedic resources Wikidata; Q127384596
Entry history
Entry creation02-May-2024
Last entry update10-Sep-2024
Version number2