Some properties of diploid cell strains developed from the tissues of patients with inherited biochemical disorders

Abstract

genetically marked cell strains. Although a great many such disorders are known (1), only a few have been shown to impart a distinctive phenotype to the serially cultured human cell. Human diploid cells which are capable of extended growth in vitro rarely, if ever, resemble the char acteristic cell of their tissue of origin (2, 3, 4). Hence one can study only those genetic loci which affect proteins normally present in the cultured cell. Other loci, such as those concerned with hemoglobin biosynthesis, are inaccessible to the in vestigator, because the relevant protein is not made in detectable quantities by cells of any genotype. Table 1 lists a number of genetic dis eases and variants in which an abnormal Mendelian gene has been shown to affect a specific molecule present in serially cul tured human diploid cells. Evidence that a characteristic phenotype can be demon strated in cultured cells has been reported for galactosemia (5, 6, 7, 8), acatalasia I (9), acatalasia II (10), the Mediterranean variety of glucose-6-phosphate dehydro genase deficiency (11, 12, 13), the Negro variety of glucose-6-phosphate dehydro genase deficiency (14), familial non-sphe rocytic hemolytic anemia (12), electro