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LearnNB100-86991
antibody from Novus Biologicals
Targeting: CEP290
3H11Ag, BBS14, CT87, FLJ13615, JBTS5, KIAA0373, LCA10, MKS4, NPHP6, POC3, rd16, SLSN6
Western blot
ImmunocytochemistryAntibody data
- Antibody Data
- Antigen structure
- References [9]
- Comments [0]
- Validations
- Western blot [3]
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- Product number
- NB100-86991 - Provider product page
- Provider
- Novus Biologicals
- Proper citation
- Novus Cat#NB100-86991, RRID:AB_1201171
- Product name
- Rabbit Polyclonal CEP290 Antibody
- Antibody type
- Polyclonal
- Description
- Immunogen affinity purified.
- Reactivity
- Human, Mouse
- Host
- Rabbit
- Antigen sequence
The epitope recognized by CEP290 An
tibody maps to a region between res
idue 2429 and 2479 of human centros
omal protein 290kDa using the numbe
ring given in entry NP_079390.3 (Ge
neID 80184).- Isotype
- IgG
- Vial size
- 100 ul
- Concentration
- 1.0 mg/ml
- Storage
- Store at 4C. Do not freeze.
Submitted references Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models.
Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease.
The BEACH Protein LRBA Promotes the Localization of the Heterotrimeric G-protein Golf to Olfactory Cilia.
DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome.
Lineage specificity of primary cilia in the mouse embryo.
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.
Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis.
AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation.
B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.
Dulla K, Aguila M, Lane A, Jovanovic K, Parfitt DA, Schulkens I, Chan HL, Schmidt I, Beumer W, Vorthoren L, Collin RWJ, Garanto A, Duijkers L, Brugulat-Panes A, Semo M, Vugler AA, Biasutto P, Adamson P, Cheetham ME
Molecular therapy. Nucleic acids 2018 Sep 7;12:730-740
Molecular therapy. Nucleic acids 2018 Sep 7;12:730-740
Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease.
Barny I, Perrault I, Michel C, Soussan M, Goudin N, Rio M, Thomas S, Attié-Bitach T, Hamel C, Dollfus H, Kaplan J, Rozet JM, Gerard X
Human molecular genetics 2018 Aug 1;27(15):2689-2702
Human molecular genetics 2018 Aug 1;27(15):2689-2702
The BEACH Protein LRBA Promotes the Localization of the Heterotrimeric G-protein Golf to Olfactory Cilia.
Kurtenbach S, Gießl A, Strömberg S, Kremers J, Atorf J, Rasche S, Neuhaus EM, Hervé D, Brandstätter JH, Asan E, Hatt H, Kilimann MW
Scientific reports 2017 Aug 16;7(1):8409
Scientific reports 2017 Aug 16;7(1):8409
DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome.
Slaats GG, Saldivar JC, Bacal J, Zeman MK, Kile AC, Hynes AM, Srivastava S, Nazmutdinova J, den Ouden K, Zagers MS, Foletto V, Verhaar MC, Miles C, Sayer JA, Cimprich KA, Giles RH
The Journal of clinical investigation 2015 Sep;125(9):3657-66
The Journal of clinical investigation 2015 Sep;125(9):3657-66
Lineage specificity of primary cilia in the mouse embryo.
Bangs FK, Schrode N, Hadjantonakis AK, Anderson KV
Nature cell biology 2015 Feb;17(2):113-22
Nature cell biology 2015 Feb;17(2):113-22
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.
Alby C, Piquand K, Huber C, Megarbané A, Ichkou A, Legendre M, Pelluard F, Encha-Ravazi F, Abi-Tayeh G, Bessières B, El Chehadeh-Djebbar S, Laurent N, Faivre L, Sztriha L, Zombor M, Szabó H, Failler M, Garfa-Traore M, Bole C, Nitschké P, Nizon M, Elkhartoufi N, Clerget-Darpoux F, Munnich A, Lyonnet S, Vekemans M, Saunier S, Cormier-Daire V, Attié-Bitach T, Thomas S
American journal of human genetics 2015 Aug 6;97(2):311-8
American journal of human genetics 2015 Aug 6;97(2):311-8
Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis.
Garanto A, van Beersum SE, Peters TA, Roepman R, Cremers FP, Collin RW
PloS one 2013;8(11):e79369
PloS one 2013;8(11):e79369
AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation.
Gerard X, Perrault I, Hanein S, Silva E, Bigot K, Defoort-Delhemmes S, Rio M, Munnich A, Scherman D, Kaplan J, Kichler A, Rozet JM
Molecular therapy. Nucleic acids 2012 Jun 26;1:e29
Molecular therapy. Nucleic acids 2012 Jun 26;1:e29
B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.
Hopp K, Heyer CM, Hommerding CJ, Henke SA, Sundsbak JL, Patel S, Patel P, Consugar MB, Czarnecki PG, Gliem TJ, Torres VE, Rossetti S, Harris PC
Human molecular genetics 2011 Jul 1;20(13):2524-34
Human molecular genetics 2011 Jul 1;20(13):2524-34
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Supportive validation
- Submitted by
- Novus Biologicals (provider)
- Main image
- Experimental details
- Western Blot: CEP290 Antibody [NB100-86991] - Whole cell lysate from HeLa (5, 15 and 50 mcg for WB; 1 mg for IP, 20% of IP loaded) and 293T (T; 50 mcg) cells. NB100-86991 used for WB at 0.1 mcg/ml (A) and 1 mcg/ml (B) and used for IP at 3 mcg/mg lysate.
- Submitted by
- Novus Biologicals (provider)
- Main image
- Experimental details
- Western Blot: CEP290 Antibody [NB100-86991] - Species: Mouse, Cell line: Brain homogenate, Primary antibody dilution: 1:400. Band detected at 300KDa. This image has been provided by Manfred W. Kilimann, MD, PhD, Professor in Molecular Cell Biology, Uppsala University.
- Submitted by
- Novus Biologicals (provider)
- Main image
- Experimental details
- Western Blot: CEP290 Antibody [NB100-86991] - Detection of human CEP290 by western blot and immunoprecipitation. Samples: Whole cell lysate from HeLa (5, 15 and 50 ug for WB; 1 mg for IP, 20% of IP loaded) and HEK293T (T; 50 ug) cells. Antibodies: Affinity purified rabbit anti-CEP290 antibody NB100-86991 used for WB at 0.1 ug/ml (A) and 1 ug/ml (B) and used for IP at 3 ug/mg lysate. Detection: Chemiluminescence with exposure times of 30 seconds (A) and 10 second (B).
