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
To place an order please log in to your account or sign up for a new account.
For more information on our International Standards for oncogene variant detection contact grmteam@nibsc.org.