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Cellosaurus publication CLPUB00387

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) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda (1980)
Web pages http://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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