Cytogenet. Cell Genet. 22: 684-685 (1978)
Report from the Human Genetic Mutant Cell Repository to the Fourth International Workshop on Human Gene Mapping (Winnipeg, 1977) A .E . G rhhnk Institute for Medical Research, Camden, N.J.
Supported by Contract N01-GM-6-2119 from the National Institute of General Medical Sciences.
Downloaded by: Access provided by the University of Michigan Library 141.216.78.40 - 1/1/2019 7:28:00 PM
The Human Genetic Mutant Cell Repository was established at the Institute for Medical Research in 1972 by the National Institute of General Medical Sciences to facilitate and support clinical and basic research programs in genetics.' In the last 5 years more than 2000 cell cultures have been cultivated from skin biopsies, lymphocytes, or lowpassage cell cultures from individuals with chromosomal aberrations or biochemical mutant diseases and from normals. The Repository staff has assigned a high priority to the collection and storage of cells with chromo somal abnormalities that can be useful in cell hybridization studies for gene assignments.2 Many of the cultures stored in the Repository have been used in experiments reported in the New Haven (1973), Rotterdam (1974), Baltimore (1975), and Winnipeg (1977) Conferences. The fourth edition of the catalog, published in October 1977, lists 1300 characterized cell cultures which are currently available for distribution to geneticists and allied biomedical investigators." The section composed of human fibroblast cultures with chromosomal aberrations contains 240 cell lines (as compared to 29 at the New Haven Conference), including 105 cultures with translocations, 14 with inversions, 12 monosomies, 16 trisomies, 3 triploids, 27 deletions, rings, and isochromosomes, 4 teratomas, 23 cul tures with biochemical markers, and 30 from syndromes with increased chromosome breakage. The karyotypes of many of these cultures have been verified after recovery of these cells from liquid nitrogen storage. The collection also includes fibroblast cell lines from more than 150 bio-
G reene New experimental methods
685
chemical mutant diseases and 230 lymphoid lines, of which 30 are from individuals with chromosomal abnormalities. HLA antigens, immuno globulins, and doubling times have been determined for many of the lymphoid cultures. The Repository staff has continued to publish short descriptions of cell cultures with chromosome abnormalities and enzyme deficiencies in Cytogenetics and Cell Genetics. These brief reports describe various cell cultures stored in the Repository and serve to alert investigators to submit biopsies to the Repository. Each report consists of a brief history of the patient donating the cells, clinical data when appropriate, family pedigree when available, a description of the chromosome abnormality — using the Paris Conference (1971) nomenclature — and references to previously published data. A photograph of the trypsin-Giemsa banded karyotype prepared from cells recovered from liquid nitrogen to verify the abnor mality after frozen storage is also included in the short description. The contributor and co-workers are listed as senior authors of the report. A total of 53 cell line descriptions have been published in Cytogenetics and Cell Genetics since 1974. Since the initiation of the genetic cell bank, over 6000 individual cultures have been distributed to numerous laboratories, including many investigators studying gene mapping. The increasing number of cultures now stored in the Repository has resulted in a vast accumulation of documentation relating to these cell cultures. These data are being computerized to make storage and retrieval of information more efficient and responsive to the needs of scientists utilizing the Repository. Individuals desiring to submit biopsies or cultures from documented cases, obtain information, or order cell cultures from the Repository should contact the author.123
1 C oriell , L.L.: Cell repository. Science 180: 427 (1973). M c K usick . V.A. and R uddle , F.H.: The status of the gene map of the human chromosomes. Science 196: 390-405 (1977). 3 C oriell , L.L. and G reene , A.E.: Human Genetic Mutant Cell Repository, 4th Ed. (Institute for Medical Research, Camden, N.J., 1977). Downloaded by: Access provided by the University of Michigan Library 141.216.78.40 - 1/1/2019 7:28:00 PM
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Report from the Human Genetic Mutant Cell Repository to the Fourth International Workshop on Human Gene Mapping (Winnipeg, 1977) A .E . G rhhnk Institute for Medical Research, Camden, N.J.
Supported by Contract N01-GM-6-2119 from the National Institute of General Medical Sciences.
Downloaded by: Access provided by the University of Michigan Library 141.216.78.40 - 1/1/2019 7:28:00 PM
The Human Genetic Mutant Cell Repository was established at the Institute for Medical Research in 1972 by the National Institute of General Medical Sciences to facilitate and support clinical and basic research programs in genetics.' In the last 5 years more than 2000 cell cultures have been cultivated from skin biopsies, lymphocytes, or lowpassage cell cultures from individuals with chromosomal aberrations or biochemical mutant diseases and from normals. The Repository staff has assigned a high priority to the collection and storage of cells with chromo somal abnormalities that can be useful in cell hybridization studies for gene assignments.2 Many of the cultures stored in the Repository have been used in experiments reported in the New Haven (1973), Rotterdam (1974), Baltimore (1975), and Winnipeg (1977) Conferences. The fourth edition of the catalog, published in October 1977, lists 1300 characterized cell cultures which are currently available for distribution to geneticists and allied biomedical investigators." The section composed of human fibroblast cultures with chromosomal aberrations contains 240 cell lines (as compared to 29 at the New Haven Conference), including 105 cultures with translocations, 14 with inversions, 12 monosomies, 16 trisomies, 3 triploids, 27 deletions, rings, and isochromosomes, 4 teratomas, 23 cul tures with biochemical markers, and 30 from syndromes with increased chromosome breakage. The karyotypes of many of these cultures have been verified after recovery of these cells from liquid nitrogen storage. The collection also includes fibroblast cell lines from more than 150 bio-
G reene New experimental methods
685
chemical mutant diseases and 230 lymphoid lines, of which 30 are from individuals with chromosomal abnormalities. HLA antigens, immuno globulins, and doubling times have been determined for many of the lymphoid cultures. The Repository staff has continued to publish short descriptions of cell cultures with chromosome abnormalities and enzyme deficiencies in Cytogenetics and Cell Genetics. These brief reports describe various cell cultures stored in the Repository and serve to alert investigators to submit biopsies to the Repository. Each report consists of a brief history of the patient donating the cells, clinical data when appropriate, family pedigree when available, a description of the chromosome abnormality — using the Paris Conference (1971) nomenclature — and references to previously published data. A photograph of the trypsin-Giemsa banded karyotype prepared from cells recovered from liquid nitrogen to verify the abnor mality after frozen storage is also included in the short description. The contributor and co-workers are listed as senior authors of the report. A total of 53 cell line descriptions have been published in Cytogenetics and Cell Genetics since 1974. Since the initiation of the genetic cell bank, over 6000 individual cultures have been distributed to numerous laboratories, including many investigators studying gene mapping. The increasing number of cultures now stored in the Repository has resulted in a vast accumulation of documentation relating to these cell cultures. These data are being computerized to make storage and retrieval of information more efficient and responsive to the needs of scientists utilizing the Repository. Individuals desiring to submit biopsies or cultures from documented cases, obtain information, or order cell cultures from the Repository should contact the author.123
1 C oriell , L.L.: Cell repository. Science 180: 427 (1973). M c K usick . V.A. and R uddle , F.H.: The status of the gene map of the human chromosomes. Science 196: 390-405 (1977). 3 C oriell , L.L. and G reene , A.E.: Human Genetic Mutant Cell Repository, 4th Ed. (Institute for Medical Research, Camden, N.J., 1977). Downloaded by: Access provided by the University of Michigan Library 141.216.78.40 - 1/1/2019 7:28:00 PM
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