HAP1 knockout cell lines

The single largest bank of isogenic cell lines with over 7,500 cell lines to choose from and trusted by academia, biotech, and pharma research labs. Cell models to suit any application, from TIDVAL to antibody validation, delivered in as few as 10 days.

HAP1 Parental Cell Lines available

COL6A3 ( Human )

Entrez Gene 1293 entrezgene 1293

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collagen type VI alpha 3 chain

Alias

BTHLM1 | DYT27 | UCMD1

This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009].

Advantages of HAP1 knockout cell lines

Easily characterize knockout of your gene-of-interest in a biological context
Ready-made knockout cell lines are available for all non-essential human genes
Editing has been confirmed by Sanger sequencing of genomic DNA
Two independent knockout products for each gene, allowing second-clone analysis if more than one data point is required

Proven models

Our catalog of cell lines has become a gold-standard resource in antibody validation, cancer research, and early drug-discovery research. Horizon was recently recognized by CiteAb as the Cell Line Supplier to Watch in Cancer Research for 2024. Read more about the CiteAb award.

Why are HAP1 cells an ideal option for gene-edited cell line models?

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.

HAP1 cell line properties include:

Sustained growth at single cell dilutions
Ease of transfection
Rapid doubling time
Not selected for ploidy status

Will have haploid and diploid populations

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.

Limited use agreement

All cell lines engineered by Horizon Discovery are purchased under the terms of our Limited Use Label License.