title: [An usage of cultured human cell lines in studies of inherited metabolic disease].
abstract: Cultured skin fibroblasts and lymphoblastoid lines (established by Epstein-Barr infection) derived from patients have been commonly used in studies on inherited metabolic disorders. It is generally accepted that, on some occasions, valuable information for comprehending the normal transport function and intracellular metabolism in human cells only becomes available through studies using affected cells, and not normal cells. Besides clarification of the mechanism an abnormal function caused by a mutant enzyme, cultured cells provide other useful information (or products), with advanced procedures including cell fusion and gene technology; genetic heterogeneity (gene complementation analysis), correction of mutant genes (transfer of genes or gene products), gene cloning of a specific locus (using chromosomal deletion) and gene expression. The application of "reverse genetics" may permit further access to a complex cellular system.
authors.affiliation: Department of Padiatrics, Kumamoto University Medical School, Japan.
authors.forename: I
authors.initials: I
authors.lastname: Matsuda
mesh_terms: D001402:B-Lymphocytes; D002461:Cell Line, Transformed; D002478:Cells, Cultured; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D005347:Fibroblasts; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000235:genetics* / Q000378:metabolism