ID   HEK293 THAP7DCC #40
AC   CVCL_B5DV
DR   Wikidata; Q110432854
RX   PubMed=31905202;
CC   Sequence variation: Mutation; HGNC; 23190; THAP7; Simple_edited; p.Lys241Ter (c.721A>T); Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=31905202).
CC   Sequence variation: Mutation; HGNC; 23190; THAP7; Simple_edited; p.Arg242Ter (c.727_728CG>TA); Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=31905202).
CC   Transformant: NCBI_TaxID; 28285; Adenovirus 5.
CC   Derived from site: In situ; Fetal kidney; UBERON=UBERON_0002113.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_0045 ! HEK293
SX   Female
AG   Fetus
CA   Transformed cell line
DT   Created: 16-12-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=31905202; DOI=10.1371/journal.pone.0224646;
RA   Dehaene H., Praz V., Lhote P., Lopes M., Herr W.;
RT   "THAP11F80L cobalamin disorder-associated mutation reveals normal and
RT   pathogenic THAP11 functions in gene expression and cell
RT   proliferation.";
RL   PLoS ONE 15:E0224646-E0224646(2020).
//