Osong Public Health and Research Perspectives

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

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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

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Brief Report

A Strategic Plan for the Second Phase (2013–2015) of the Korea Biobank Project: Ok Park, Sang Yun Cho, So Youn Shin, Jae-Sun Park, Jun Woo Kim, Bok-Ghee Han; Osong Public Health Res Perspect. 2013;4(2):107-116. Published online April 30, 2013; DOI: https://doi.org/10.1016/j.phrp.2013.03.006

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Abstract PDF

The Korea Biobank Project (KBP) was led by the Ministry of Health and Welfare to establish a network between the National Biobank of Korea and biobanks run by university-affiliated general hospitals (regional biobanks). The Ministry of Health and Welfare started the project to enhance medical and health technology by collecting, managing, and providing researchers with high-quality human bioresources. The National Biobank of Korea, under the leadership of the Ministry of Health and Welfare, collects specimens through various cohorts and regional biobanks within university hospitals gather specimens from patients. The project began in 2008, and the first phase ended in 2012, which meant that there needed to be a plan for the second phase that begins in 2013. Consequently, professionals from within and outside the project were gathered to develop a plan for the second phase. Under the leadership of the planning committee, six working groups were formed to formulate a practical plan. By conducting two workshops with experts in the six working groups and the planning committee and three forums in 2011 and 2012, they have developed a strategic plan for the second phase of the KBP. This document presents a brief report of the second phase of the project based on a discussion with them.During the first phase of the project (2008–2012), a network was set up between the National Biobank of Korea and 17 biobanks at university-affiliated hospitals in an effort to unify informatics and governance among the participating biobanks. The biobanks within the network manage data on their biospecimens with a unified Biobank Information Management System. Continuous efforts are being made to develop a common standard operating procedure for resource collection, management, distribution, and personal information security, and currently, management of these data is carried out in a somewhat unified manner. In addition, the KBP has trained and educated professionals to work within the biobanks, and has also carried out various publicity promotions to the public and researchers. During the first phase, biospecimens from more than 300,000 participants through various cohorts and biospecimens from more than 200,000 patients from hospitals were collected, which were distributed to approximately 600 research projects.The planning committee for the second phase evaluated that the first phase of the KBP was successful. However, the first phase of the project was meant to allow autonomy to the individual biobanks. The biobanks were able to choose the kind of specimens they were going to collect and the amount of specimen they would set as a goal, as well as being allowed to choose their own methods to manage their biobanks (autonomy). Therefore, some biobanks collected resources that were easy to collect and the resources needed by researchers were not strategically collected. In addition, there was also a low distribution rate to researchers outside of hospitals, who do not have as much access to specimens and cases as those in hospitals. There were also many cases in which researchers were not aware of the KBP, and the distribution processes were not set up to be convenient to the demands of researchers.Accordingly, the second phase of the KBP will be focused on increasing the integration and cooperation between the biobanks within the network. The KBP plans to set goals for the strategic collection of the needed human bioresources. Although the main principle of the first phase was to establish infrastructure and resource collection, the key objective of the second phase is the efficient utilization of gathered resources. In order to fully utilize the gathered resources in an efficient way, distribution systems and policies must be improved. Vitalization of distribution, securing of high-value resource and related clinical and laboratory information, international standardization of resource management systems, and establishment of a virtuous cycle between research and development (R&D) and biobanks are the four main strategies. Based on these strategies, 12 related objectives have been set and are planned to be executed.

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