ID   HEK293 HADH-/-
AC   CVCL_A5IP
SY   HEK293 SCHAD KO
DR   Wikidata; Q107115304
RX   PubMed=32876354;
CC   Knockout cell: Method=CRISPR/Cas9; HGNC; 4799; HADH.
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: 20-05-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=32876354; DOI=10.1002/jimd.12309;
RA   Velasco K., St-Louis J.L., Hovland H.N., Thompson N., Ottesen A.,
RA   Choi M.H., Pedersen L., Njolstad P.R., Arnesen T., Fjeld K.,
RA   Aukrust I., Myklebust L.M., Molven A.;
RT   "Functional evaluation of 16 SCHAD missense variants: only amino acid
RT   substitutions causing congenital hyperinsulinism of infancy lead to
RT   loss-of-function phenotypes in vitro.";
RL   J. Inherit. Metab. Dis. 44:240-252(2021).
//