Directed differentiation and characterization of genetically modified embryonic stem cells for therapy.

Adeline A. Lau, Kim M. Hemsley, Adrian Meedeniya, Aaron J. Robinson, John J. Hopwood

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)


Lysosomal storage disorders are rare, inherited diseases caused by a deficiency of a specific, lysosomal enzyme. In the case of mucopolysaccharidosis type IIIA, a lack of active sulfamidase enzyme results in heparan sulfate accumulation, severe and progressive neurological deficits, and usually premature death. Embryonic stem cells can be genetically modified to overexpress lysosomal enzymes, providing a renewable reservoir of cells that can be readily expanded in culture. Screening clonal lines of embryonic stem cells for desirable properties such as high levels and maintenance of enzyme activity throughout terminal differentiation to neural phenotypes theoretically provides a reproducible population of cells that can be fully characterized in vitro before implantation within the central nervous system in animal models of lysosomal storage disorders.

Original languageEnglish
Pages (from-to)471-484
Number of pages14
JournalMethods in molecular biology (Clifton, N.J.)
Publication statusPublished or Issued - 2006
Externally publishedYes

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics

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