| Abstract |
Since its inception in 1972, an increasing number of investi-gators have
utilized the Human Genetic Mutant Cell Repository as a source of
contaminant free, verified, biochemically mutant or chromosomally aberrant
cell cultures. This increased demand is illustrated on the following two
pages. A newly instituted utilization survey indicates that these cell
cultures are in demand in almost every discipline of biomedical research.
In 1979, the Repository has continued its efforts to assure the high
quality of cell cultures established and shipped: lymphoblast cell
cultures are being established from over 90% of the heparinized blood
specimens received, the collection is continually reviewed and cell
cultures are added or deleted as better cultures become available,
advanced equipment has been added for programmed freezing and liquid
nitrogen storage, and a new shipping container employed during the cold
winter months has guaranteed that over 94% of the cell cultures shipped
via air mail arrive in good condition. The sixth edition of the catalog
includes a number of changes which make it more informative and easier to
use. These changes include: a simplified table of contents, a section on
use of the catalog, a new format, a Repository number versus page number
index, a comprehensive list of references, and improvements to the
alphabetical diagnosis index. As submissions to the Repository approach
3,600 specimens it is becoming increasingly difficult to justify the
addition of an inadequately documented line to the collection. For this
reason, as much information as is available to support the clinical
diagnosis as well as a detailed pedigree should accompany the submission
of a specimen. This is especially important in the case of disorders with
unknown biochemical defects. Several collections have been judged complete
and, unless a specimen represents a unique opportunity i.e., blood and
skin from the same individual, a family unit, or a variant, the specimen
may not be banked. Improving the quality and characterization of the
existing collection will take precedence over expanding its size.
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