WHO 1st International Standard for ATDB102 Reference Genome
This product is a highly characterised single batch wild-type genomic DNA (gDNA) International Standard to be used as wild-type or diluent for PIK3CA c.1633G>A (E545K), TP53 p.R306*, NRAS p.G12C, PTEN p.K267fs*9, and MAP2K1/MEK1 p.D67N clinically-relevant variants. Additionally, the standard has been determined to be homozygous wild-type for PIK3CA, TP53, NRAS, PTEN, and MAP2K1/MEK1 gene copy numbers.
The International Standard was established by the WHO ECBS following an extensive collaborative study involving 35 laboratories across 22 countries and 5 continents and is suitable for any NGS (Next-Generation Sequencing) and dPCR (digital PCR) analysis.
Product details
- Contents: ~5µg freeze-dried gDNA
- Source cell line: ATDB102
- Human tissue source: EBV-transformed lymphoblastoid cell line
|
NIBSC material code
|
Nominal variant
|
Consensus variant percentage (%)
|
Consensus variant copy number per diploid human genome mass
|
Consensus total copy number per diploid human genome mass
|
Genomic coordinates
|
|---|
| 18/164 |
PIK3CA c.1633G>A (E545K) |
0.0 |
N/A |
2 |
3:178936091-178936091 |
| TP53 c.916C>T (R306*) |
0.0 |
N/A |
2 |
17:7577022-7577022 |
| NRAS c.34G>T (G12C) |
0.0 |
N/A |
2 |
1:115258748-115258748 |
| PTEN c.795delA (K267fs*9) |
0.0 |
N/A |
2 |
10:89717769-89717769 |
| MAP2K1/MEK1 c.199G>A (D67N) |
0.0 |
N/A |
2 |
15:66727483-66727483 |
Additional information
- Additional variants identified in the standard during the collaborative study demonstrate suitability for the broader validation of any NGS pipeline. For details click here.
- The gDNA size fractionation profiles of this material is compatible with long read sequencing approaches.
- Product Instructions for Use (IFU)
- We are working closely with the Genomics England Ltd R&D Team and the Medical Genomics- Glasgow Precision Oncology Laboratory to further characterize this material for long read sequencing and whole genome sequencing (WGS).
How to order
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For more information on our International Standards for oncogene variant detection contact grmteam@nibsc.org.