加利拉基因库:来自遗传病患者的DNA和细胞系生物库

Q2 Medicine Open Journal of Bioresources Pub Date : 2016-04-26 DOI:10.5334/OJB.15
C. Baldo, Valeria Viotti, E. Maioli, M. Mogni, M. Castagnetta, S. Cavani, G. Piombo, D. Coviello
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引用次数: 7

摘要

加列拉基因库是热那亚加列拉医院人类遗传学实验室的一部分,自1983年以来一直收集遗传疾病患者的样本。目前,它存储了10259个生物标本和大约200种遗传疾病的相关数据。最具代表性的疾病是染色体疾病(唐氏综合症、环14号染色体、Cri du chat综合症和等心15号染色体)、神经系统疾病(脆性X染色体、Mowat Wilson综合症和Dravet综合症)、罕见骨病(Crouzon综合症、软骨发育不全症、Grieg综合症和Thanathophoric侏儒症)、过度生长综合征(Sotos综合症)、家族性肥厚性心肌病和其他罕见疾病,如IPEX和Aarskog。该生物库自1993年以来一直得到意大利Telethon的资助,并自2008年以来成为Telethon遗传生物库网络的合作伙伴。它按照意大利和国际法规运营。自2008年以来,生物库通过了ISO 9001认证,并于2010年正式获得利古里亚地区的授权,作为支持遗传病诊断和研究的设施运营。自成立以来,生物银行向生物医学界提供了以下服务:(i)获取样本和收集数据;(ii)样品处理(如细胞系建立、DNA/RNA提取等);(iii)保存生物标本和相关数据(知识库服务),在科学论文中获得110多篇致谢。
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Galliera Genetic Bank: A DNA and Cell Line Biobank from Patients Affected by Genetic Diseases
The Galliera Genetic Bank is part of the Laboratory of Human Genetics of Galliera Hospital in Genoa and has collected samples from patients affected by genetic diseases since 1983. Presently, it stores 10,259 biospecimens and associated data from about 200 genetic disorders. The most representative disorders are chromosome disorders (Down s., Ring chromosome 14 s., Cri du chat s. and Isodicentric 15 chromosome), neurological diseases (Fragile X s., Mowat Wilson s. and Dravet s.), rare bone diseases (Crouzon s., Achondroplasia, Grieg s. and Thanathophoric dwarfism), overgrowth syndromes (Sotos s.), familial hypertrophic cardiomyopathy and other rare disease such as IPEX and Aarskog s. The biobank has been supported by Italian Telethon grants since 1993 and since 2008 is partner of the Telethon Network of Genetic Biobanks. It operates according to Italian and international regulations. Since 2008 the biobank is certified ISO 9001, and in 2010 it was officially authorized by the Liguria Region to operate as a facility in support of diagnosis and research on genetic diseases. Since its inception, the biobank has offered the following services to the biomedical community: (i) access to sample and data collection; (ii) sample processing (e.g., cell lines establishment, DNA/RNA extraction, etc); (iii) preservation of biological specimens and related data (repository service), garnering more than 110 acknowledgements in scientific articles.
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来源期刊
Open Journal of Bioresources
Open Journal of Bioresources Biochemistry, Genetics and Molecular Biology-Biochemistry, Genetics and Molecular Biology (miscellaneous)
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