CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011].
Proven knockout models
Our HAP1 human knockout cells have become a gold-standard resource for antibody validation and early drug discovery research. Horizon was recently recognized by CiteAb as the knockout cell line or lysate supplier with the most citations in the last year.
Read more about this award here.
Our HAP1 cell line database represents the synergy of two great systems - the amenability of human haploid HAP1s to gene editing and CRISPR-Cas9 technology. Haploid cells have a single copy of almost every human chromosome. HAP1 is a human near-haploid cell line derived from the male chronic myelogenous leukemia (CML) cell line KBM-7. For more details on how the HAP1 cell line was created, please see the references tab.
HAP1 cell line properties include:
- Sustained growth at single cell dilutions
- Ease of transfection
- Rapid doubling time
- Haploid background
Why use a Haploid cell line?
The majority of commonly used cell lines are diploid or even have more than two copies of any particular allele. When gene editing for loss of function mutations, each allele has to be modified for the phenotype to be expressed. The HAP1 cell line has the advantage of having one copy of each gene meaning you can be sure the edited allele will not be masked by addition alleles. This is is why haploid cells have been an established tool for genetic analysis for decades, as only one allele requires modification.
Limited use agreement
All cell lines engineered by Horizon Discovery are purchased under the terms of our Limited Use Label License.
Shipping conditions: Dry ice
Storage conditions: Liquid nitrogen
Biological safety level: BSL-1
How was the HAP1 cell line created? Check out these great articles below to learn more about how the HAP1 cell line was generated.
- Essletzbichler P. et al., Genome Res. 2014 Megabase-scale deletion using CRISPR/Cas9 to generate a fully haploid human cell line View
- Dong M. et al., Neurology 2014 DAG1 mutations associated with asymptomatic hyperCKemia and hypoglycosylation of a-dystroglycan View
- Kravtsova-Ivantsiv Y. et al., Cell 2015 KPC1-mediated ubiquitination and proteasomal processing of NF-κB1 p105 to p50 restricts tumor growth View
- Carette et al. Nature. 2011 Ebola virus entry requires the cholesterol transporter Niemann–Pick C1 View
- Lackner DH et al. Nat Commun A generic strategy for CRISPR-Cas9-mediated gene tagging View
- Kotecki et al. Exp Cell Res. 1999 Isolation and Characterization of a Near-Haploid Human Cell Line View
- Carette et al. Science. 2009 Haploid Genetic Screens in Human Cells Identify Host Factors Used by Pathogens View
We are confident that HAP1 and Cancer-related Ready-to-go cell lines are the ideal product to further your research
However, if you are not totally satisfied with the performance of any of our HAP1 and Cancer-related Ready-to-go cell lines, for any reason, we will gladly refund your purchase, including shipping costs.
If you would like further information or to invoke your guarantee, complete the Contact Us form and we will walk you through the process. All we require is that you sign our “letter of destruction” confirming that these cell lines are no longer being used.
Terms and Conditions:
- This guarantee excludes Cas9 and dCas9-VPR stable cell line products
- This guarantee is valid up to 3 months from purchase date
- The refund concerns no more than 3 Ready-to-go cell lines
- The refund cannot be higher than the purchase price for the cell line products
- The refund will not apply if any of the Limited Use Label Licenses (LULL) are violated