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Stem Cell Res. 2019 Mar;35:101393. doi: 10.1016/j.scr.2019.101393. Epub 2019 Jan 26.

Generation of induced pluripotent stem cells (iPSCs) from patient with Cri du Chat Syndrome.

Author information

1
Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy. Electronic address: giovanna.piovani@unibs.it.
2
A. Nocivelli Institute for Molecular Medicine, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.
3
Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.

Abstract

The Cri du Chat Syndrome (CdCS) is a genetic disease resulting from variable size deletion occurring on the short arm of chromosome 5. The main clinical features are a high-pitched monochromatic cry, microcephaly, severe psychomotor and mental retardation with characteristics of autism spectrum disorders such as hand flapping, obsessive attachments to objects, twirling objects, repetitive movements, and rocking. We reprogrammed to pluripotency peripheral blood mononuclear cells derived from a patient carrying large deletion on the short arm of chromosome 5, using a commercially available non-integrating expression system. The iPSCs expressed pluripotency markers and differentiated in the three embryonic germ layers.

PMID:
30711802
DOI:
10.1016/j.scr.2019.101393
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