Properties of Diploid Cell Strains Developed from Patients with an Inherited Abnormality of Uridine Biosynthesis
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Excerpt
INTRODUCTION
1. GENETICALLY MARKED DIPLOID CELL STRAINS
The tissues of patients with inherited biochemical diseases are one source of genetically marked cells capable of in vitro growth. In order for the abnormal genotype to be detectable, however, the mutant gene must affect a molecule which normally occurs in cultured cells. Unfortunately, many interesting human loci affect specialized proteins, such as hemoglobin, that cannot usually be demonstrated in serially propagated cell strains. In Table 1 we have listed a number of genetic diseases (and variants) in which we suspect the abnormal gene affects a protein present in cultured cells. Evidence has been published that a characteristic phenotype can be demonstrated in cultured cells for galactosemia (Krooth and Weinberg, 1960, 1961; Krooth, 1964a), acatalasia (Krooth, Howell, and Hamilton, 1962), the Mediterranean variety of glucose-6-phosphate dehydrogenase deficiency (Gartler, Gandini, and Ceppellini, 1962; Gartler, 1963; Davidson, Nitowsky, and Childs, 1963), familial non-spherocytic hemolytic anemia (Gartler,...
