Publication number |
CLPUB00387 |
Authors |
Coriell L.L., Greene A.E., Mulivor R.A. |
Title |
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 7th edition. October 1980. |
Citation |
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda; USA (1980) |
Web pages |
https://hdl.handle.net/2027/pur1.32754081178554 |
Abstract |
The seventh edition of the N.I.G.M.S. Human Genetic Mutant Cell Repository
catalog contains a number of changes which make it more informative and
easier to use. These changes include double spacing between each listing
to increase legibility, highlighting the disease diagnosis by underlining,
and the replacement of brackets which contained family groups by two
columns of numbers which indicate the pedigree (Fam#) to which the
individual belongs and from which family member (Famm#) within the
pedigree the specimen was obtained. The bibliography (Appendix C) has been
enlarged to include approximately one thousand scientific publications
which either describe patients from whom specimens were obtained or cite
publications in which Repository cultures were utilized. During 1979, the
Repository has continued to be utilized by an increasing number of
investigators who desire a source of contaminant free, verified,
biochemically mutant or chromosomally aberrant cell cultures. This
increased demand is illustrated by the graphs on the following two pages.
The Repository has also continued its efforts to improve the quality of
the collection by having experts in various disease catagories either
verify the biochemical or chromosomal abnormalities present in the
cultures or review the clinical documentation for patients whose mutations
are not as yet verifiable in cultured cells. As the collection approaches
7,200 specimens, improving the quality and characterization of the
existing collection will take precedence over expanding its size. However,
the submission of specimens from well documented patients representing
disease catagories which are not currently stored in the Repository are
welcomed.
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