The "Cell line and DNA Biobank from patients affected by Genetic Diseases" is situated at the "Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche", part of the Diagnostic and Research Department of Istituto Giannina Gaslini 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 250 different genetic defects.

At present, the Biobank is part of the Telethon Network of Genetic Biobanks, which is constituted by 11 Italian Biobanks.

Clinical database

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.

Informed consent

According to ethical and legal recommendations, the samples have been taken for analysis and biobanking after written donor informed consent, approved by the local Ethics Committee.

Quality control

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.