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Cellosaurus HEK293 HADH-/- (CVCL_A5IP)

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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; Human adenovirus C serotype 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
Kelly Velasco, Johanna L. St-Louis, Henrikke Nielsen Hovland, Nels Thompson, Asta Ottesen, Man Hung Choi, Line Pedersen, Pal Rasmus Njolstad, Thomas Arnesen, Karianne Fjeld, Ingvild Aukrust ...Show all 13 authors... , Line Merethe Myklebust, Anders Molven; Show fewer authors
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 update14-Aug-2025
Version number6