There are; flourescence microscope (Leica DMIL) and software for the analysis of cells, temperature and pH control unit (Leica) for live cell imaging, cell culture laminar flow (Faster-biosafety level 2), carbondioxyde incubator (Heraeus Hera), electroporator for gene transfer (Harvard Apparatus ECM830), liquid nitrogen tank for the storage of cells, in our laboratories.
Cell Lines:
HeLa Human cervix adenocarcinoma cell line
C2C12 Mouse myoblast cell line
COS7 Monkey kidney cell line
THP1 Human monocyte cell line
J774 Mouse monocyte-macrophage cell line
HEK 293 Human embryonic kidney cell line
HL60 Human premyeloblast cell line
PC12 Rat pheochoromocytoma cell line
3T3-L1 Mouse preadipocyte cell line
Primary Cells:
Human primary fibroblast (SMA/Gaucher/DMD/LGMD2)
Human primary myoblast (LGMD2/DMD/s-IBM/h-IBM)
Human Schwann Cells
Human preadipocyte cells
Rat preadipocyte cells
There are; DNA sequence analysis equipment (ABI 3130), RT-PCR systems (Corbett-Rotorgene 6000 and BioRad iCycler iQ5 Real-Time Detection System, ABI 9700)for quantitative and semi quantitative PCR applications, micro array hybridization and washing station (Affymetrix Genechip hybridzation 640, Affymetrix Genechip fluidics station 450) for transcriptomic and SNP genotyping studies, sonicator (Sonic vibracell), gel documentation and imaging system (Biometra, Genegnome) in our laboratories.
Genetic diagnosis laboratories consists of; DNA isolation/data verification laboratory, molecular genetic analysis laboratory and electrophoresis/imaging laboratory. In our laboratory; 1900 postnatal and 120 prenatal diagnosis were performed annually since 1992. The diseases that we perform genetic test are; Cystic Fibrosis (CF), Duchenne Muscular Dystrophy (DMD), Spinal Muscular Atrophy (SMA), Gaucher's Disease, Familial Mediterranean Fever (FMF), Mitochondrial cytopathies, Leber’s Hereditary Optic Neuropathy (LHON).
Hacettepe Rare Diseases Biobank was established in 1994 by Technology Development Fund of Turkey. It was supported by The Scientific and Technological Research Council of Turkey (TUBITAK) until 2007 when the whole infrastructure was turned over to Hacettepe University. As the Biobank is a public facility at a government university, there is no charge demanded from families for deposition of samples.
Families are referred to the biobank after clinical examination by respective departments. A document of medical and personal information together with the informed consent form accompanies samples, signed by the medical attendee and the principle medical doctor responsible for the unit. By 2014, the biological registry holds a total number of DNA samples (31.000) from 5700 families and 1200 cells/tissues (lymphoblastoid cell lines, fibroblast, muscle, brain and other biopsy specimens). The main contributions to the DNA registry are neurological (46%), metabolic (19%), nephrological (15%), gastroenterological (9%), immunological/haematological (5%), chest diseases (3%) and dermatological disorders (3%). The medical and personal data from the families are maintained via the Oracle Database Server System. The system is encrypted with codes open to only the IT personnel. Retrievable anonymization of the data complies with basic ethical norms.
The physical infrastructure is as follows: cryopreservation unit, tissue culture laboratory, general laboratory, IT facility and molecular biology laboratory. The total capacity of the cryopreservation unit is: -20°C, 15,000 samples; -80°C, 200,000 samples; -196°C, 15,000 samples. The system is run by security CO2 Back up system, Uninterrupted Power Supply (UPS) Systems, and Alarm System linked to telephones. The Bank is managed by a director (PhD, professor of Medical Biology); two biologists (MS) responsible for sample preparation and quality assurance; one medical biologist (PhD) responsible for daily operations and best practice guidelines; and a data manager responsible for data entry and retrievable anonymization of samples.
The Biobank is a member of EuroBioBank - European Network of DNA, Cell and Tissue Banks for Rare Diseases.