Product nameHuman USB1 knockout HeLa cell lysate
Cell line information
Parental cell line: HeLa
Organism: Homo sapiens
Gene editing information
Editing tool: CRISPR/Cas9
Mutation: 1 bp insertion in exon1.
Knockout validation: Confirmed by Sanger sequencing.
Reconstitution instructions: To use as a WB control, resuspend in 45 µL of Sample buffer (40% (w/v) Glycerol, 4% (w/v) Lithium Dodecyl Sulfate, 4% Ficoll 400, 0.025% Phenol Red, 0.025% Brilliant Blue G250, 2 mM EDTA) and 5 µL of DTT to resuspend @ 2mg/ml. Mix well, then boil the sample for 10 minutes before loading it onto the gel.
User storage instructions: Upon receiving, lysate can be diluted with 1 x SDS sample buffer & will be stable at -20°C for 12 months. Long term storage at -80°C.
Knockout validationSanger Sequencing
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It is the responsibility of our customers to check the necessity of application of REACH Authorisation, and any other relevant authorisations, for their intended uses.
Storage instructionsStore at -80°C. Please refer to protocols.
Components 1 kit Human USB1 knockout HeLa cell lysate (Lyophilized) 1 x 100µg Human Wild Type HeLa cell lysate (Lyophilized) 1 x 100µg
Involvement in diseaseDefects in C16orf57 are the cause of poikiloderma with neutropenia (PN) [MIM:604173]. PN is a genodermatosis characterized by poikiloderma, pachyonychia and chronic neutropenia. The disorder starts as a papular erythematous rash on the limbs during the first year of life. It gradually spreads centripetally and, as the papular rash resolves, hypo- and hyperpigmentation result, with development of telangiectasias. Another skin manifestation is pachyonychia, but alopecia and leukoplakia are distinctively absent. One of the most important extracutaneous symptoms is an increased susceptibility to infections, mainly affecting the respiratory system, primarily due to a chronic neutropenia and to neutrophil functional defects. Bone marrow abnormalities account for neutropenia and may evolve into myelodysplasia associated with the risk of leukemic transformation. Poikiloderma with neutropenia shows phenotypic overlap with Rothmund-Thomson syndrome.
Sequence similaritiesBelongs to the UPF0406 family.
- Information by UniProt
- Chromosome 16 open reading frame 57
ab263408 has not yet been referenced specifically in any publications.