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Cell lines for the study of Lysosomal Storage Diseases: conservation and identity

2022-07-22Conference object Open access
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dc.contributor.authorCorreia, Maria I.
dc.contributor.authorDuarte, Ana J.
dc.contributor.authorRibeiro, Diogo
dc.contributor.authorAmaral, Olga
dc.date.accessioned2022-11-02T14:03:58Z
dc.date.available2022-11-02T14:03:58Z
dc.date.issued2022-07-22
dc.description.abstractThe use of cell lines has revolutionized research in the area of human genetics. The possibility of allowing, at a low cost and relative ease, practical access to biological material bearing in mind the benefit to the patient/family by obtaining samples with adequate informed consent, is a great asset. The accessibility of cell lines from biobanks allows access to samples with all the ethical and feasibility concerns observed. Cell lines are usually cryopreserved in liquid nitrogen and can be maintained in viable conditions for long periods of time. Cell lines allow studies of the causes of the disease, namely: the establishment of cell models, for a better understanding of the pathophysiology; the study of gene interactions; toxicity assays and drug tests; gene editing studies and other types of research. Using fibroblasts from patients with Lysosomal Storage Diseases (LSDs), it was already possible in this laboratory to revert cells to the stem cell state by creating induced pluripotent stem cells (iPSCs) to serve as a model in future studies. This clearly demonstrates the potential of cell lines for research. As with other cell lines, iPSCs can be cryopreserved which increases their potential for use. In order to guarantee the integrity and viability of cryopreserved cell lines, in laboratories, not exclusively dedicated to cell culture (as would be the case of a biobank), it would be advisable to periodically perform random thawing of samples in order to guarantee the identity of the preserved cells, genetic stability and absence of contaminants. There are several ways to do this however, in this work, we present some of the techniques used based on minimal procedures to ensure the cellular integrity of cryopreserved lines. It would be desirable, even in small laboratories, that procedures like these were adopted in a standardized and routine way, to facilitate the success of the subsequent use of cells in research.pt_PT
dc.description.sponsorshipProjeto 2022DGH2116, referente a tese de licenciatura na UTAD, e realizado no INSA
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/8294
dc.language.isoporpt_PT
dc.peerreviewedyespt_PT
dc.subjectLysosomal Storage Diseasespt_PT
dc.subjectCell Culturespt_PT
dc.subjectHuman Geneticspt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleCell lines for the study of Lysosomal Storage Diseases: conservation and identitypt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceAveiro, Portugalpt_PT
oaire.citation.title2nd Workshop on Sphingolipids in Health and Disease, Department of Medical Sciences, University of Aveiro, 22 July 2022pt_PT
person.familyNameAmaral
person.givenNameOlga
person.identifier.ciencia-id6F1F-54A3-BBB9
person.identifier.orcid0000-0002-3478-2122
person.identifier.scopus-author-id7004054964
rcaap.rightsopenAccesspt_PT
rcaap.typeconferenceObjectpt_PT
relation.isAuthorOfPublication8c7fb04a-80c0-4dd7-b3c5-682f6d25662b
relation.isAuthorOfPublication.latestForDiscovery8c7fb04a-80c0-4dd7-b3c5-682f6d25662b

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