Many biospecimen repositories or tissue core facilities collect de-identified biospecimens such as blood or tissue from human patients for use in IRB approved research projects studying everything from factors that contribute to cancer to studying specific disorders such as Crohn's disease, diabetes, or Alzheimer's disease.
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Research facilities, which are connected to hospital systems, may collect samples of normal and diseased human material from willing and informed patients with a specific disease type (e.g. lung cancer). Qualified researchers can utilize these de-identified human biospecimens in their research projects to study changes in the normal tissue that progress to cancer or other disorders. In order to properly compare the research data obtained from the normal "control" sample to the data obtained from the tumor or diseased sample, the biospecimen core facility should perform a cost effective and straightforward STR profiling quality control check to confirm that the identity of the human biospecimens match each other PRIOR to starting any experiments and before sending any biospecimens to other researchers (internal or external collaborators). If possible, the STR profiles of the normal and diseased specimens should be compared to the STR profile of the patient's reference specimen (e.g., whole blood, buccal swabs, etc) prior to starting any experiments.
Databases of genomic information from willing and informed patients with specific genetic disorders or conditions are useful tools in assessing causality, new technologies and treatments. In order to ensure that all the genetic information compiled from these patients is assigned to the correct patient, a quick and easy STR profiling DNA identification test should be done on that patient's "reference" sample (e.g., buccal swab, whole blood, etc.). This ensures that all downstream applications using that DNA extract can be quickly and easily traced back to that patient's reference STR profile when needed; a quality control test essential to the validity of the downstream data.
STR profiling is the most often used method for human DNA identification – it is the same technique that is recommended for the authentication of human cell lines used for research purposes . The STR profiling method is quick, cost-efficient, and the human identification results are straightforward (only identical twins have the same STR profile). Once you receive your baseline reference STR profile of your de-identified patient samples, you can use that reference STR profile as a QC tracking code for all downstream uses of those specimens (e.g., in the creation of primary and/or cancer cell lines, stem cell lines or xenografts, or in translational genomics research between the normal and tumor/diseased tissue).
Inadvertent cell line contamination has been a major problem for biomedical researchers for over 50 years ; by performing this essential quality control check on the biospecimens used for translational genomics research or used to create cancer cell lines, stem cell lines and xenografts, you are helping to keep research on a solid foundation.
The advantages of STR profiling over other “identification” methods are, at minimum, twofold:
In addition, the NCBI (National Center for Biotechnology Information) supported BioSample database hosts a growing collection of authenticated human cell lines in an effort to address the problem of cell line misidentification; these records include the STR profile information as well as the supporting peak data. As a creator of in-house cell lines from human biospecimens obtained from your biospecimen core facility, you would be able to submit the STR profile of your newly created cell line for inclusion in the BioSample database so that all researchers utilizing your cell line can check the authenticity of the sample in their own lab.