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Cellosaurus HEK293 HADH-/- (CVCL_A5IP)

[Text version]
Cell line name HEK293 HADH-/-
Synonyms HEK293 SCHAD KO
Accession CVCL_A5IP
Resource Identification Initiative To cite this cell line use: HEK293 HADH-/- (RRID:CVCL_A5IP)
Comments Knockout cell: Method=CRISPR/Cas9; HGNC; HGNC:4799; HADH.
Transformant: NCBI_TaxID; 28285; Adenovirus 5.
Derived from site: In situ; Fetal kidney; UBERON=UBERON_0002113.
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=32876354; DOI=10.1002/jimd.12309
Velasco K., St-Louis J.L., Hovland H.N., Thompson N., Ottesen A., Choi M.H., Pedersen L., Njolstad P.R., Arnesen T., Fjeld K., Aukrust I., Myklebust L.M., Molven A.
Functional evaluation of 16 SCHAD missense variants: only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss-of-function phenotypes in vitro.
J. Inherit. Metab. Dis. 44:240-252(2021)

Cross-references
Encyclopedic resources Wikidata; Q107115304
Entry history
Entry creation20-May-2021
Last entry update19-Dec-2024
Version number5