加利拉基因库:来自遗传病患者的DNA和细胞系生物库

Q2 Medicine
C. Baldo, Valeria Viotti, E. Maioli, M. Mogni, M. Castagnetta, S. Cavani, G. Piombo, D. Coviello
{"title":"加利拉基因库:来自遗传病患者的DNA和细胞系生物库","authors":"C. Baldo, Valeria Viotti, E. Maioli, M. Mogni, M. Castagnetta, S. Cavani, G. Piombo, D. Coviello","doi":"10.5334/OJB.15","DOIUrl":null,"url":null,"abstract":"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.","PeriodicalId":36769,"journal":{"name":"Open Journal of Bioresources","volume":"3 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2016-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"7","resultStr":"{\"title\":\"Galliera Genetic Bank: A DNA and Cell Line Biobank from Patients Affected by Genetic Diseases\",\"authors\":\"C. Baldo, Valeria Viotti, E. Maioli, M. Mogni, M. Castagnetta, S. Cavani, G. Piombo, D. Coviello\",\"doi\":\"10.5334/OJB.15\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"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.\",\"PeriodicalId\":36769,\"journal\":{\"name\":\"Open Journal of Bioresources\",\"volume\":\"3 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2016-04-26\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"7\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Open Journal of Bioresources\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5334/OJB.15\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Open Journal of Bioresources","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5334/OJB.15","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"Medicine","Score":null,"Total":0}
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。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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.
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Open Journal of Bioresources
Open Journal of Bioresources Biochemistry, Genetics and Molecular Biology-Biochemistry, Genetics and Molecular Biology (miscellaneous)
自引率
0.00%
发文量
0
审稿时长
14 weeks
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信