Thursday, February 6, 2014
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Correction of ring
chromosomes in patient-derived induced pluripotent stem (iPS) cells
fibroblasts into iPS cells could help correct ring chromosome abnormalities
for gene therapy applications. In fibroblasts from a patient with
Miller-Dieker syndrome with a heterozygous ring chromosome 17, 4 of 6 iPS
cell clones generated from the fibroblasts lost the ring chromosome and
gained a second, identical copy of the other chromosome 17 because of a
compensatory uniparental disomy mechanism. Clones that retained the ring
chromosome were not viable through multiple passages. The findings were
replicated in cells from two additional patients with chromosome 13 rings.
Next steps include testing whether the strategy can be applied to other types
of chromosomal abnormalities.
Published online Feb. 6, 2014
Unpatented; unavailable for
Bershteyn, M. et al.
Nature; published online Jan. 12, 2014;
Contact: Anthony Wynshaw-Boris, Case Western Reserve University,
Contact: Shinya Yamanaka, Gladstone Institute of
Cardiovascular Disease, San Francisco, Calif.
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