Journal
STEM CELL RESEARCH
Volume 20, Issue -, Pages 67-69Publisher
ELSEVIER
DOI: 10.1016/j.scr.2017.02.017
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Human fibroblast cells collected from a 3-year old, female Rett Syndrome patient with a 32 bp deletion in the X-linked MECP2 gene were obtained from the Coriell Institute. Fibroblasts were reprogrammed to iPSC cells using a Sendai-virus delivery system expressing human KOSM transcription factors. Cell-line pluripotency was demonstrated by gene expression, immunocytochemistry, in-vitro differentiation trilineage capacity and was of normal karyotype. Interestingly, subsequent clones retained the epigenetic memory of the parent fibroblasts allowing for the segregation of wild-type and mutant expressing clones. This MECP2 mutant expressing clone may serve as a model for investigating MECP2 reactivation in Rett's Syndrome. (C) 2017 The Authors. Published by Elsevier B.V.
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