I. INTRODUCTION 



The Human Genetic Mutant Cell Repository established in 1972 by 

 the National Institute of General Medical Sciences at the Institute 

 for Medical Research, Camden, New Jersey, contains low passage skin 

 fibroblast, lymphoblast, amniotic fluid cell, and a few animal cell 

 cultures stored in liquid nitrogen from hereditary diseases includ- 

 ing those with biochemical and chromosome abnormalities and normal 

 controls. Cell cultures stored in the Repository are verified for 

 freedom from contamination, species of origin, karyotype, viability 

 and expression of the biochemical or chromosomal defect. These cells 

 are available to organizations or individuals engaged in health- 

 related research or health delivery concerning early diagnosis, 

 prevention, treatment, counseling and research for control of some 

 of the 2,000 or more inherited diseases that afflict human beings. 

 The problems in many of these diseases are gene abnormalities which 

 alter one or more chemical steps in the normal metabolic sequence 

 of cells. The application of techniques for detailed study of these 

 cellular chemical processes in cell culture is leading to a wealth 

 of information about human genetics and improvement in the prevention 

 and treatment of genetic diseases and probably many other diseases 

 in which genetic factors are not yet recognized to play a significant 

 role. The Repository program has been developed by the National 

 Institute of General Medical Sciences with the help of a scientific 

 advisory committee which periodically reviews the progress of the 



