White Blood Cell Cultures in Genetic Studies on the Human Mucopolysaccharidoses

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Science  25 Apr 1969:
Vol. 164, Issue 3878, pp. 424-426
DOI: 10.1126/science.164.3878.424


Cultures of white cells derived from peripheral blood of individuals homozygous and heterozygous for the inherited mucopolysaccharidoses revealed a distinct intracellular metachromatic staining with toluidine blue O. These short-term cultures circumvent the technical problems of skin fibroblast cultures and provide a simple screening procedure to detect the heterozygous state for the mucopolysaccharidoses, as well as offering an opportunity to study the heterozygous state of various inherited storage diseases.