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Alias
This gene encodes a component of the outer-core of an alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor protein in the brain. The encoded protein is thought to interact with inner-core components of the receptor, and play a role in the modulation of glutamate signaling. Mutations in this gene are associated with early infantile epileptic encephalopathy 37. [provided by RefSeq, Jul 2016].
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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. HAP1 is a human near-haploid cell line derived from the chronic myelogenous leukemia (CML) cell line KBM-7. KBM-7 cells were derived from a male patient and lack a Y chromosome. Therefore, haploid HAP1 cells contain a single X chromosome. For more details on how the HAP1 cell line was created and their full genotype, please see the references tab.
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. With passaging, HAP1 cells will spontaneously diploidize over time. However, the knockout will not be affected by diploidization as it is a duplication of the edited allele that gives rise to the diploid state.
See our HAP1 publication list to see how the cell line has been applied for a wide range of biological processes and assays, such as DNA damage repair pathway, stress responses, disease modeling as well as antibody validation.
All cell lines engineered by Horizon Discovery are purchased under the terms of our Limited Use Label License.