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Original Article
- Instability at Short Tandem Repeats in Lymphoblastoid Cell Lines
- Jae-Eun Lee, Eun-Jung Hong, Ji-Hyun Kim, So Youn Shin, Young-Youl Kim, Bok-Ghee Han
- Osong Public Health Res Perspect. 2013;4(4):194-196. Published online August 31, 2013
- DOI: https://doi.org/10.1016/j.phrp.2013.06.003
- 3,813 View
- 18 Download
- 1 Crossref
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Abstract
PDF - Objectives
Epstein Barr virus (EBV)-transformed lymphoblastoid cell lines (LCLs) are a useful biological resource, however, genomic variations can happen during the generation and immortalization processes of LCLs. The purpose of this study was to identify genomic variations in LCL DNA compared with matched blood DNA using short tandem repeats (STRs) analysis.
Methods
We analyzed 15 STRs with blood DNA and their matched LCL DNA samples from 6645 unrelated healthy individuals.
Results
Mutations (such as repeat variations and triallelic patterns) of 15 STR loci were detected in 612 LCL DNAs (9.2% of total) without mutations in their matched blood DNA. The repeat variations of 15 STRs were detected in 526 LCL DNAs (mutation rate = 0.0792) and triallelic patterns were identified in 123 (mutation rate = 0.0185). Among 15 STRs, the most common repeat variations (n = 214, mutation rate = 0.0322) and triallelic patterns (n = 17, mutation rate = 0.0026) were found at FGA locus.
Conclusion
Our study shows that mutations in STRs can occur during generation and immortalization of LCLs. -
Citations
Citations to this article as recorded by
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Article
- National Biobank of Korea: Quality control Programs of Collected-human Biospecimens
- Jae-Eun Lee, Ji-Hyun Kim, Eun-Jung Hong, Hye Sook Yoo, Hye-Young Nam, Ok Park
- Osong Public Health Res Perspect. 2012;3(3):185-189. Published online June 30, 2012
- DOI: https://doi.org/10.1016/j.phrp.2012.07.007
- 4,066 View
- 23 Download
- 20 Crossref
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Abstract
PDF
- Personalized medicine is emerging as a main paradigm for risk prediction, pre-diagnosis, and effective prevention and treatment of disease. A large number of human biospecimens and their clinical data are essential resources for the success of personalized medicine as well as other biomedical research. The National Biobank of Korea (NBK) has collected well-annotated and high quality human biospecimens, and distributes them to the Korean biomedical scientists, through the Korea Biobank Project (KBP). The ultimate goal of NBK activities is to promote biomedical research and public health. As of December- 2011, the NBK has collected various human biospecimens from 525,416 participants including 325,952 Korean populations and 199,464 patients. The purpose of this paper is to introduce the KBP and quality control programs for collection of human biospecimens with high quality of NBK.
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Citations
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