Ashkenazim son cfDNA (EGFR)

Ashkenazim son cfDNA is a highly characterized human DNA from cell lines. Manufactured for liquid biopsy assays in your laboratory or R&D department. Details on mutation status of specific genes and Whole Genome Sequencing (WGS) data are freely available through the Personal Genome Project (PGP) and our own quality assurance.

SKU: SID-0003-1 Category:

Product description

Recommended use:

These products are ideal for digital PCR and/or Next Generation Sequencing (NGS). In particular:

1. Validation and development of sequencing protocols (e.g. Whole Genome Sequencing (WGS), Amplicon Sequencing) and PCR protocols
2. spike-in experiments with synthetic cfDNA
3. Control in workflow validations
4. Analyze the performance of your NGS pipeline by comparing to freely available datasets
5. Negative Control for EGFR mutations (p.G719S, p.E746_A750delELREA, p.S752_I759delSPKANKEI, p.S768I, p.V769_D770insASV, p.T790M, p.L858R, p.L861Q)

Unit Size:
400 ng

Concentration:
20 ng/µl

Mutation:

AA Change (Cosmic ID, Mutation type, HGVS Nomenklatur, Exon)

  • p.G719S (COSM6252*, Substitution, c.2155G>A, Exon 18)
  • p.E746_A750delELREA (COSM6225*, Deletion, c.2236_2250del15, Exon 19)
  • p.S752_I759delSPANKEI (COSM6256*, Deletion, c.2254_2277del24, Exon 19)
  • p.S768I (COSM6241*, Substitution, c.2303G>T, Exon 20)
  • p.V769_D770insASV (COSM20884*, Insertion, c.2303_2304ins9, Exon 20)
  • p.T790M (COSM6240*, Substitution, c.2369C>T, Exon 20)
  • p.L858R (COSM6224*, Substitution, c.2573T>G, Exon 21)
  • p.L861Q (COSM6213*, Substitution, c.2582T>A, Exon 21)

Allelic frequenies:
0%

Buffer:
Tris-EDTA (10 mM Tris, 1 mM EDTA), pH 8,0

Storage:
2-8 °C

Expiry:
stable for 12 months from date of manufacture (as supplied)

Quality control

Fragmentation size:
High Sensitivity DNA Kit Agilent

Allelic Frequency:
Next Generation Sequencing

Quantification:
UV-Vis Spectrophotometry (NIST-Reference method)

Technical background

Derived from:
cell line GM24385 (HG002- NA24385 – huAA53E0)

Bioinformatics:
– lot specific sequencing files: LOT Search
– High-confidence variant calls: ftp://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/release/AshkenazimTrio
– Raw datasets and bam files, currently including 10X Genomics, BioNano, Complete Genomics regular and LFR, 300x Illumina paired-end, Illumina 6kb mate-pair, 1000x Ion exome, custom moleculo libraries, ~0.05x Oxford Nanopore, and 70x/30x/30x PacBio: ftp://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/data/AshkenazimTrio/HG002_NA24385_son/

Documents

Certificate of Analysis:

Batch Certificate


Lot: 00004

other Documents:

Safety Data Sheet (SDS in other languages ​​available on request. Please contact the support.)

Instructions