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 diso...

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Published inStem cell research Vol. 35; p. 101393
Main Authors Piovani, Giovanna, Lanzi, Gaetana, Ferraro, Rosalba Monica, Masneri, Stefania, Barisani, Chiara, Savio, Giulia, Giliani, Silvia Clara
Format Journal Article
LanguageEnglish
Published England Elsevier B.V 01.03.2019
Elsevier
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Summary: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.
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ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2019.101393