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Content archived on 2024-04-15

EUROPEAN HUMAN GENETIC MUTANT CELL BANK

Objective

THE SCOPE OF THE PROJECT ENCOMPASSES THE INTEREST OF FAMILIES AFFECTED WITH DISEASES INVOLVING SINGLE MENDELIAN DISORDERS (LIKE DUCHENNE'S MUSCULAR DYATROPHY, NEUROFIBROMATOSIS, POLYPOSIS COLI AND THE COLLAGNE-DISORDERS, E.G. MARFAN'S SYNDROME AND OSTEOGENESIS IMPERFECTA) IN ALL EUROPEAN COUNTRIES. IT WILL BECOME AN ESSENTIAL SOURCE OF INFORMATION FOR PRESENT AND FUTURE RESEARCH, TO BE CONTINUED DURING A PERIOD OF AT LEAST TWO GENERATIONS.
REASONS FOR THIS ARE :

- MANY GENETIC DISORDERS DO NOT GIVE SYMPTOMS BEFORE ADULT AGE,
- IN EVERY SINGLE FAMILY, AS MANY INFORMATIVE SUBJECTS (BOTH AFFECTED AND UNAFFECTED) MUST BE AVAILABLE FOR THE STUDY, FOR INSTANCE IN THE TESTING OF A (PRESYMPTOMATIC) DIAGNOSTIC TEST.
- NEW TECHNOLOGIES (LIKE DNA-PROBES) ARE BEING DEVELOPED AT A RAPID RATE, AND THEIR TESTABILITY GREATLY DEPENDS UPON INFORMATIVE MATERIALS FROM WELL-STUDIED FAMILIES,
- FOR THE TESTING OF ANY DNA, ENZYMATIC OR BIOCHEMICAL MARKER, CELL MATERIAL FROM MULTIPLE GENERATIONS FROM EVERY SINGLE FAMILY (INCLUDING BOTH AFFECTED PROBAND(S) AND UNAFFECTED RELATIVES) IS ESSENTIAL TO ESTABLISH ANY RELEVANT SEGREGATION PATTERN, USEFUL IN CONSTRUCTING AN INFORMATIVE AND RELIABLE DIAGNOSTIC TEST. THE HETEROGENEITY WITHIN MANY GENETIC DISORDERS MAKES IT ESSENTIAL, THAT THESE DATA ARE OBTAINED FROM EVERY SINGLE INDIVIDUAL FAMILY TO BE STUDIED PROSPECTIVELY IN THE FUTURE.
Recent years have seen rapid progress in the genetic mapping of human gene disorders. The generation of a collection of cell lines from patients and their families with genetic disorders provides the research community with an invaluable resource.
The human cell bank (HCB) was generated from blood samples received from patients with genetic disorders. The B lymphocytes were separated from the blood and immortalized with Epstein-Barr virus (EBV). A human and viral deoxyribonucleic acid (DNA) probe bank was also established and a catalogue containing information on all the cell lines and probes collected was published.

During the last 4 years, HCB received over 600 blood samples from depository centres throughout Europe and even as far afield as Brazil and Canada. Examples of some of the more common disorders so far collected include: muscular dystrophy, diabetes, cystic fibrosis, schizophrenia, tuberous sclerosis and many other less common disorders. The overall success rate for obtaining an established cell line from blood samples was 90% and these cell lines are available to the scientific community. 100 DNA probes have been collected, mainly X chromosome specific and Y chromosome specific, but also including some viruses.
A catalogue including all the above material has been published and distributed annually for the past 2 years.
IT IS THE OBJECT OF THIS PROJECT TO ESTABLISH A HUMAN GENETIC MUTANT CELL BANK DERIVED FROM FAMILIES WITH A WELL DOCUMENTED DIAGNOSTIC HISTORY OF DISEASE ASSOCIATION. THIS WILL ALSO INCLUDE NORMAL (CONTROL) MATERIAL. THUS A READILY ACCESSIBLE SOURCE OF DNA WILL BE MADE AVAILABLE VIA LONG-TERM CELL CULTURES.

A COLLECTION OF :

(I) FIBROPLASTIC CELL LINES OBTAINED BY SKIN BIOPSY.
(I) B-LYMPHOBLASTOID CELL LINES DERIVED FROM LYMPHOCYTES ISOLATED FROM BLOOD SAMPLES TAKEN FROM PATIENTS AND DESPATCHED TO THE NCACC LABORATORIES. TRANSFORMATION IN VITRO WITH EPSTEIN-BARR VIRUS RESULTS IN AN IMMORTALISED CELL LINE WITH AN INFINITE LIFE SPAN.

ONCE CELL LINES ARE ESTABLISHED A DISTRIBUTION STOCK WILL BE PREPARED IN THE NCACC LABORATORIES AND WILL BE MADE AVAILABLE TO EUROPEAN SCIENTISTS FOR R & D AND DIAGNOSTIC WORK.

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Coordinator

CENTRE FOR APPLIED MICROBIOLOGY AND RESEARCH (CAMR)
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Address
PORTON DOWN
SALISBURY
United Kingdom

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