Biochemically marked lymphocytoid lines: establishment of Lesch-Nyhan cells.
Two lymphocytoid cell lines have been established from a patient with the Lesch-Nyhan syndrome. The cells are deficient in hypoxanthine-guanine phosphoribosyltransferase, as demonstrated by their failure to incorporate [H(3)]hypoxanthine and by their inability to grow in medium in which they were nutritionally dependent upon exogenous hypoxanthine. This represents the first establishment of presumptively permanent human lymphocytoid cell lines that are deficient in a specific enzyme.
D001264:Athetosis / Q000235:genetics; D002460:Cell Line / Q000378:metabolism; D002819:Chorea / Q000235:genetics; D003192:Compulsive Behavior; D046508:Culture Techniques; D006801:Humans; D007042:Hypoxanthines / Q000378:metabolism*; D007074:Immunoglobulin G / Q000096:biosynthesis; D007075:Immunoglobulin M / Q000096:biosynthesis; D007136:Immunoglobulins / Q000096:biosynthesis; D008607:Intellectual Disability; D008214:Lymphocytes / Q000378:metabolism*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors; D012652:Self Mutilation; D014166:Transferases / Q000378:metabolism; D014316:Tritium; D014527:Uric Acid / Q000097:blood
D007042:Hypoxanthines; D007074:Immunoglobulin G; D007075:Immunoglobulin M; D007136:Immunoglobulins; D014316:Tritium; D014527:Uric Acid; D014166:Transferases