ID   Caco-2 UNC45A KO
AC   CVCL_D0R6
SY   UNC45AKO Caco-2
DR   Wikidata; Q123030844
RX   PubMed=35575086;
CC   Population: Caucasian.
CC   Knockout cell: Method=CRISPR/Cas9; HGNC; 30594; UNC45A.
CC   Sequence variation: Mutation; HGNC; 583; APC; Simple; p.Gln1367Ter (c.4099C>T); ClinVar=VCV000376060; Zygosity=Homozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 2514; CTNNB1; Simple; p.Gly245Ala (c.734G>C); Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 6770; SMAD4; Simple; p.Asp351His (c.1051G>C); ClinVar=VCV000375998; Zygosity=Homozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 11998; TP53; Simple; p.Glu204Ter (c.610G>T); ClinVar=VCV000977783; Zygosity=Homozygous (from parent cell line).
CC   Derived from site: In situ; Colon; UBERON=UBERON_0001155.
DI   NCIt; C4349; Colon adenocarcinoma
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_0025 ! Caco-2
SX   Male
AG   72Y
CA   Cancer cell line
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=35575086; DOI=10.1172/JCI154997;
RA   Duclaux-Loras R., Lebreton C., Berthelet J., Charbit-Henrion F.,
RA   Nicolle O., Revenu des Courtils C., Waich S., Valovka T., Khiat A.,
RA   Rabant M., Racine C., Guerrera I.C., Baptista J., Mahe M.M.,
RA   Hess M.W., Durel B., Lefort N., Banal C., Parisot M., Talbotec C.,
RA   Lacaille F., Ecochard-Dugelay E., Demir A.M., Vogel G.F., Faivre L.,
RA   Rodrigues A., Fowler D., Janecke A.R., Muller T., Huber L.A.,
RA   Rodrigues-Lima F., Ruemmele F.M., Uhlig H.H., Del Bene F., Michaux G.,
RA   Cerf-Bensussan N., Parlato M.;
RT   "UNC45A deficiency causes microvillus inclusion disease-like phenotype
RT   by impairing myosin VB-dependent apical trafficking.";
RL   J. Clin. Invest. 132:e154997.1-e154997.12(2022).
//