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Cellosaurus Caco-2 UNC45A KO (CVCL_D0R6)

[Text version]
Cell line name Caco-2 UNC45A KO
Synonyms UNC45AKO Caco-2
Accession CVCL_D0R6
Resource Identification Initiative To cite this cell line use: Caco-2 UNC45A KO (RRID:CVCL_D0R6)
Comments Population: Caucasian.
Knockout cell: Method=CRISPR/Cas9; HGNC; HGNC:30594; UNC45A.
Derived from site: In situ; Colon; UBERON=UBERON_0001155.
Sequence variations
  • Mutation; HGNC; HGNC:583; APC; Simple; p.Gln1367Ter (c.4099C>T); ClinVar=VCV000376060; Zygosity=Homozygous (from parent cell line).
  • Mutation; HGNC; HGNC:2514; CTNNB1; Simple; p.Gly245Ala (c.734G>C); Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; HGNC:6770; SMAD4; Simple; p.Asp351His (c.1051G>C); ClinVar=VCV000375998; Zygosity=Homozygous (from parent cell line).
  • Mutation; HGNC; HGNC:11998; TP53; Simple; p.Glu204Ter (c.610G>T); ClinVar=VCV000977783; Zygosity=Homozygous (from parent cell line).
Disease Colon adenocarcinoma (NCIt: C4349)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_0025 (Caco-2)
Sex of cell Male
Age at sampling 72Y
Category Cancer cell line
Publications

PubMed=35575086; DOI=10.1172/JCI154997; PMCID=PMC9106349
Duclaux-Loras R., Lebreton C., Berthelet J., Charbit-Henrion F., Nicolle O., Revenu des Courtils C., Waich S., Valovka T., Khiat A., Rabant M., Racine C., Guerrera I.C., Baptista J., Mahe M.M., Hess M.W., Durel B., Lefort N., Banal C., Parisot M., Talbotec C., Lacaille F., Ecochard-Dugelay E., Demir A.M., Vogel G.F., Faivre L., Rodrigues A., Fowler D., Janecke A.R., Muller T., Huber L.A., Rodrigues-Lima F., Ruemmele F.M., Uhlig H.H., Del Bene F., Michaux G., Cerf-Bensussan N., Parlato M.
UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking.
J. Clin. Invest. 132:e154997.1-e154997.12(2022)

Cross-references
Encyclopedic resources Wikidata; Q123030844
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number3