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


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. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Piovani G, Lanzi G, Ferraro RM, Masneri S, Barisani C, Savio G, Giliani SC
Journal Stem cell research
Publication Date 2019 Mar;35:101393
PubMed 30711802
DOI 10.1016/j.scr.2019.101393

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