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Exploring the Mysteries of H3-3A Mutations: H3-3A p.K28M Mutant Genomic DNA Standard

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Our AI-Edigene® H3-3A p.K28M Reference Standard Plus is is a high-quality, fully validated genomic DNA (gDNA). It targets a clinically significant site in the H3-3A gene: c.83A>T (p.K28M).
  • CBP10640

  • CBP10640

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Product Overview

In the fields of epigenetics and tumor research, histone mutations have always been a hot topic of scientific interest. In particular, mutations in the H3-3A (H3.3) gene have attracted considerable attention due to their crucial role in the development and progression of childhood tumors. To assist researchers in accurately developing relevant detection methods and conducting mechanistic studies, we are pleased to introduce the H3-3A p.K28M mutant genomic DNA standard.

This standard is a high-quality, fully validated genomic DNA (gDNA). It targets a clinically significant site in the H3-3A gene: c.83A>T (p.K28M).

The H3-3A gene encodes the H3.3 variant of histone, a histone that integrates into chromosomes independently of DNA synthesis and plays a vital role in transcriptional regulation and development. According to literature, the H3-3A p.K28M mutation is a key driver in various childhood tumors, especially with a very high detection rate in childhood glioblastoma and giant cell tumor of bone.

This product is based on the NM_002107.7 transcript and has undergone rigorous Sanger sequencing validation to ensure the accuracy of the mutation site. It is a powerful tool for applications such as liquid biopsy, NGS panel validation, and ddPCR.


Product Features


Clearly defined mutation site

Contains a precise c.83A>T point mutation, corresponding to the p.K28M amino acid change, fully conforming to the key mutation definitions in COSMIC and clinical research databases.

Clinically relevant genotype

Uses a heterozygous form with an allele frequency of approximately 50%, highly simulating the genomic state of real patient tumor samples, suitable for quality control of detection platform sensitivity.

Rigorous quality control validation

All products undergo Sanger sequencing validation before leaving the factory to ensure the accuracy of the mutation site. DNA electrophoresis patterns are also provided to ensure DNA integrity.

Standardized Genomic Coordinates

Clearly provides GRCh37 genomic version coordinates (chr1-226252135-A-T), facilitating accurate alignment in bioinformatics analyses.

Stable Storage Conditions

Dissolves in Tris-EDTA buffer, recommended storage at 2-8℃, with a shelf life of up to 36 months, facilitating long-term use and management.


Product Advantages


High-Confidence Standards: Directly extracted from validated cell lines or cell lines constructed using gene-editing technology, ensuring clear origin and background, avoiding plasmid contamination and chimerism issues common in plasmid standards.

Simulated Real-World Samples:As genomic DNA, its background complexity more closely resembles clinical tissue samples or cfDNA samples, enabling more realistic evaluation of the entire experimental workflow (including post-nucleic acid extraction detection steps).

Ready-to-Use Design: Provides standardized 1ug packaging; concentration information can be obtained by downloading the COA, eliminating the need for cumbersome dilution calculations and validation; ready to use immediately.

Data Traceability: Each batch of product comes with a detailed Certificate of Account (COA) report, covering purity, concentration, electrophoresis graphs, and Sanger sequencing peak diagrams, providing greater evidence-based support for your experimental results.


Intended Applications

This product is suitable for the development and validation of various molecular biology detection technologies, specifically including:

Next-Generation Sequencing (NGS) Panel Validation:

Used to evaluate the accuracy, sensitivity, and specificity of targeted sequencing panels in detecting low-frequency H3-3A p.K28M mutations.

Digital PCR (ddPCR) and Real-Time Quantitative PCR (qPCR): Used as a standard to plot standard curves or as a positive control to optimize reaction systems and threshold settings.

Sanger Sequencing: Used as a control to validate the laboratory's Sanger sequencing workflow's ability to detect low-frequency heterozygous mutations.

Liquid Biopsy Technology Development: By serially diluting this standard to a wild-type background, simulating the circulating tumor DNA (ctDNA) environment, it can be used to explore detection limits.


Why Choose CB-Gene?


Focus on Precision Diagnostic Raw Materials: CB-Gene is committed to providing high-quality nucleic acid standards and molecular diagnostic raw materials for life science research and precision medicine..

Strict Quality Control System:From DNA extraction and purification to final sequencing verification, we adhere to stringent quality control processes to ensure batch-to-batch consistency.

Professional Technical Support:Our technical team possesses extensive experience in molecular biology and can provide you with professional advice on product use and experimental design.

Rapid Response: Standardized products are readily available to meet your urgent research and development needs.



FAQ

 

What is the H3-3A p.K28M mutation? Why is it so important?

H3-3A p.K28M refers to the incorrect substitution of lysine (Lysine) for methionine at position 28 of histone H3.3 protein. This mutation, known as a "histone H3.3 lysine 27 to methionine substitution mutation," despite its complex name, leads to a global disruption of gene expression regulation and is a molecular marker for cancers such as diffuse endophytic pontine glioma in children.

Can this standard be used directly for high-throughput sequencing library construction?

Yes, absolutely. This product is purified genomic DNA and can be directly used as the starting template for NGS library construction. Its 50% heterozygous mutation frequency is ideal for assessing whether bias is introduced during library construction and the accuracy of variant identification in bioinformatics workflows.

What does "Purofication" mean on the product packaging?

Hello, "Purofication" here should be "Purification." Our product undergoes high purification, with an OD260/280 ratio between 1.8 and 2.0, ensuring no contamination from proteins, RNA, or other impurities, meeting the requirements for high-sensitivity detection. Specific purity and concentration data can be downloaded from the corresponding batch's Certificate of Accreditation (COA) on the official website.

What if I need samples with different abundances (e.g., 5%, 1%) for sensitivity testing?

We recommend that you use this product (50% abundance) in a serial dilution with wild-type genomic DNA (we can provide homologous wild-type DNA standards). The high purity and precise concentration of this product will ensure the accuracy of your dilution protocol.


 

Product Information

AI-Edigene H3-3A p.K28M Reference Standard Plus

Catalog No.

CBP10640

Format

Genomic DNA

Intended Use

Research Use Only

Unit Size

1ug

Sanger sequencing

CBP10640

Storage

2~8°C

Expiry

36 months from the date of manufacture


Technical Data

Product Information

AI-Edigene H3-3A p.K28M Reference Standard Plus

DNA Change

c.83A>T

AA Change

p.K28M

Mutation type

N/A

Zygosity

Heterozygous

Allelic Frequency

50%

Transcript

NM_002107.7

Cosmic ID

N/A

Chr position(GRCh37)

chr1-226252135-A-T(H3-3A:p.K28M)

 


If you have any questions, please feel free to contact us at sales@cb-gene.com




General Information

Product Information

AI-Edigene H3-3A p.K28M Reference Standard Plus

Catalog No.

CBP10640

Format

Genomic DNA

Intended Use

Research Use Only

Unit Size

1ug

Sanger sequencing

CBP10640

Storage

2~8°C

Expiry

36 months from the date of manufacture



Detailed Data

Product Information

AI-Edigene H3-3A p.K28M Reference Standard Plus

DNA Change

c.83A>T

AA Change

p.K28M

Mutation type

N/A

Zygosity

Heterozygous

Allelic Frequency

50%

Transcript

NM_002107.7

Cosmic ID

N/A

Chr position(GRCh37)

chr1-226252135-A-T(H3-3A:p.K28M)


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