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Cellosaurus HEK293 THAP11HBM #1 (CVCL_B5E2)

[Text version]
Cell line name HEK293 THAP11HBM #1
Accession CVCL_B5E2
Resource Identification Initiative To cite this cell line use: HEK293 THAP11HBM #1 (RRID:CVCL_B5E2)
Comments Transformant: NCBI_TaxID; 28285; Adenovirus 5.
Derived from site: In situ; Fetal kidney; UBERON=UBERON_0002113.
Sequence variations
  • Mutation; HGNC; 23194; THAP11; Simple_edited; p.His244Ala (c.730_731AT>GC); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=31905202).
  • Mutation; HGNC; 23194; THAP11; Simple_edited; p.Tyr246Ala (c.736_737TA>GC); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=31905202).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_0045 (HEK293)
Sex of cell Female
Age at sampling Fetus
Category Transformed cell line
Publications

PubMed=31905202; DOI=10.1371/journal.pone.0224646
Dehaene H., Praz V., Lhote P., Lopes M., Herr W.
THAP11F80L cobalamin disorder-associated mutation reveals normal and pathogenic THAP11 functions in gene expression and cell proliferation.
PLoS ONE 15:E0224646-E0224646(2020)

Cross-references
Encyclopedic resources Wikidata; Q110432851
Entry history
Entry creation16-Dec-2021
Last entry update29-Jun-2023
Version number4