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

Publication date: Available online 26 January 2019Source: Stem Cell ResearchAuthor(s): Giovanna Piovani, Gaetana Lanzi, Rosalba Monica Ferraro, Stefania Masneri, Chiara Barisani, Giulia Savio, Silvia Clara GilianiAbstractThe 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.
Source: Stem Cell Research - Category: Stem Cells Source Type: research