Did you know as many as 30% of the cells in labs could be misidentified? And what a nightmare it would be to find out years of your work are just completely wrong because you got your skin cells mixed up with your brain cells…
So to avoid that catastrophe, I took some time to check the DNA sequence of the ACVR1 gene, because for this gene we know what should be mutated (or not) for each of my cell lines. This way I can make sure that I haven’t mixed them up in the past year (and that they haven’t picked up new mutations in this important area all by themselves).
All I had to do was collect the genomes of the cells, amplify specifically the ACVR1 gene, send it for overnight sequencing, and then I get a trace like this back from the facility:
Sequencing trace covering the R206H mutation in ACVR1 found in FOP and DIPG
Each DNA base has one peak, except one that has both a guanine (G) and an adenine (A) DNA base. The adenine, present on one chromosome, causes the change from an arginine (R) to a histidine (H) at the 206th position of the ACVR1 protein i.e. the R206H mutation.
This trace is from the HSJD-DIPG-007 cell line and is the mutation I expected. According to all my sequencing, none of my cell lines have gotten mixed up, yay!
You can read the full details of how I did this, here on Zenodo.