The "Cell line and DNA Biobank from patients affected by Genetic Diseases" is situated at the "Diagnosi Pre-Postnatale Malattie Metaboliche" Laboratory, part of the Neuroscience Department of G. Gaslini Institute and has been operating since 1975.
The Biobank has constantly provided an essential service to the scientific community by establishing, analysing, banking, and distributing cell cultures and DNAs derived from patients affected by rare genetic diseases.
The Biobank, sponsored by the Italian Telethon grants, consists of specimens (dermal fibroblasts, lymphoblasts, amniocytes, chorionic villous cells and DNAs) derived from patients due to more than 200 different genetic defects.
At present, the Biobank is part of the Telethon Genetic Biobank Network, which is constituted by 10 Italian Biobanks.
The clinical data concerning the patients are collected in a continuously updated biobank database.
The Biobank is supported by experts for clinical information revision.
To protect confidentiality, the samples are identifiable through the use of a code. Access to the data is restricted to biobank staff and is protected by a password.
According to ethical and legal recommendations, the samples have been taken for analysis and biobanking after written donor informed consent, approved by the Ethical Committee of the Gaslini Institute.
The Biobank has developed and maintains procedures to guarantee that the cell lines are free of mycoplasma, bacteria, and fungi, during expansion, at the time of frozen storage, and after recovery from liquid nitrogen of the samples for distribution.