"Diagnosi Pre-Postnatale Malattie Metaboliche" Laboratory
"Giannina Gaslini" Institute

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BIOBANK SERVICES

Pre-Postnatal analyses for genetic metabolic disorders, with particular     specialisation in lysosomal diseases

 

Establishment of cell lines:

  • EBV transformed lymphoblast cultures from human blood 

  • fibroblasts, amniocytes and chorionic villous cells from appropriate tissues

DNA/RNA extraction

Banking of collections and/or samples:

  • cryopreservation in liquid nitrogen (-180°C) of primary or transformed cell lines

  • storage of DNA at +4°C

  • storage of RNA at -80°C

 

Distributing of cell cultures and DNAs derived from patients affected     by rare genetic diseases

Sample Sending
Guidelines and Instructions
Sample Ordering
Guidelines and Requirements


SAMPLE SENDING GUIDELINES

Access to the Biobank Services for establishing, analysing and storing cell lines and/or DNAs, should be preceded by contacts with the laboratory staff.

Users must fill in a form  and provide a detailed clinical documentation of the patient on a relevant form (sending form); the inclusion of a family pedigree, if available, is appreciated.
The clinical data concerning the patients will be collected in a bank database. To protect confidentiality, the samples will be identifiable through the use of a code and access to the data will be allowed with a password.

According to ethical and legal recommendations, the samples must be taken after written informed consent, approved by the Ethical Committee of “Gaslini” Institute.
In obtaining consent, each user should inform patients about the possibility of banking the sample, its risks and benefits, possibility of authorising or not, the use of sample for research, possibility of knowing or not, the information that could result from subsequent investigations. Finally, the patient should be informed about the security procedures to ensure confidentiality.

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SAMPLE SENDING INSTRUCTIONS

>> Please read carefully sample  sending guidelines and contact the Biobank at least 48 hrs before sending the samples <<

Cell Line Establishment

  • Biopsy specimens should be placed in a vial filled to the top with culture medium containing 300 units/ml of penicillin and 300 micrograms/ml of streptomycin.
    The specimens must be shipped at room temperature directly after taking.

  • Blood specimens should be approximately 5 ml and contain 0.5 ml of sterile sodium heparin (e.g. VISTER 5.000 U/ml).
    The samples must be shipped at 4-8°C directly after taking.

 

DNA Extraction

  • Blood specimens should be approximately 10 ml and contain 200 microlitres of sterile EDTA 0.5M pH8.
    The samples must be shipped frozen

 

Sample Banking

Besides the biopsy specimens and blood specimens for culture establishment and/or DNA extraction, the Biobank accepts for depositing:

  • frozen vials

  • established cell cultures; in this case, early-passage cultures should be sent; the culture flask (preferably T25) must be filled to the top with growth medium in use and shipped at room temperature.

 

Note for users of banking service:

  • details of cell lines and DNA source will remain confidential

  • on specific request, the distribution of the deposited samples (cell lines and DNAs) for research purposes can be restricted

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SAMPLE ORDERING
REQUIREMENTS AND GUIDELINES

Cell cultures and DNA samples are distributed only to qualified professional persons who are associated with recognised research, or medical organisations engaged in health-related research or health delivery.

No payment is required for the service (except for shipping charges).

Before cell cultures or DNA samples can be ordered, the principal investigator is requested to fill in an appropriate form (Ordering form A) (Ordering Form B only for Telethon researchers) with a brief project description and to sign the following terms for the supply:

  • the specimens cannot be used for commercial purposes;

  • the specimens cannot be distributed to other investigators without written permission of the Biobank curator;

  • in the case of a scientific report, obtained using the sample, to acknowledge the Biobank (funded by Telethon grants, project no….) for having provided the specimens and to send a paper reprint to our Laboratory.

No samples are sent before receiving the signed agreement form.

The request forms are available electronically or may be obtained by e-mail contacting the Biobank. The forms must be sent by mail (a preliminary copy by fax can be accepted).
When an investigator wishes to order more samples, separate order forms for each type must be submitted.

 

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INSTRUCTIONS FOR
QUERYNG THE CATALOGUE

The catalogue including the list of the pathologies with respective OMIM numbers, availability of the samples and details about the selected sample, can be queried at different linked levels.
By selecting a specific disease from the diagnosis list access is enabled to the second level, sample list, where the availability of the samples for that specific disease is listed. The selection of a specific sample activates the third level, sample characteristics page, where further details concerning that sample are available.
A brief search fields-glossary is available.
Other links are possible (e.g. Online Mendelian Inheritance in Man, PubMed Service of National Library of Medicine…..)

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Site by Dr. Mirella Filocamo

Weekly update by Lucia Obino

Telethon grants have made this catalogue possible


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Last update: 17/06/04