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Cellosaurus TRNDi003-A (CVCL_UL12)

[Text version]
Cell line name TRNDi003-A
Synonyms HT215A
Accession CVCL_UL12
Resource Identification Initiative To cite this cell line use: TRNDi003-A (RRID:CVCL_UL12)
Comments From: NIH-NCATS-TRND Branch; Rockville; USA.
Population: African; Somali.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 9644; PTPN11; Simple; p.Gln510Pro (c.1529A>C); ClinVar=VCV000013344; Zygosity=Heterozygous (PubMed=30640061).
Disease Noonan syndrome (NCIt: C34854)
Noonan syndrome (ORDO: Orphanet_648)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_UL13 ! TRNDi003-B
Sex of cell Female
Age at sampling 13Y
Category Induced pluripotent stem cell
Publications

PubMed=30640061; DOI=10.1016/j.scr.2018.101374
Li R., Baskfield A., Lin Y.-S., Beers J.K., Zou J.-H., Liu C.-Y., Jaffre F., Roberts A.E., Ottinger E.A., Kontaridis M.I., Zheng W.
Generation of an induced pluripotent stem cell line (TRNDi003-A) from a Noonan syndrome with multiple lentigines (NSML) patient carrying a p.Q510P mutation in the PTPN11 gene.
Stem Cell Res. 34:101374-101374(2019)

Cross-references
Cell line databases/resources hPSCreg; TRNDi003-A
Encyclopedic resources Wikidata; Q98133577
Entry history
Entry creation25-Feb-2019
Last entry update29-Jun-2023
Version number7