generation of a clonal induced pluripotent stem cell (ipsc) line expressing the mutant mecp2 allele from a rett syndrome patient fibroblast line

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ID: 166435
2017
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Abstract
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.
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hunihan2017stemgeneration Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors ;Lisa Hunihan;Jeffrey Brown;Angela Cacace;Alda Fernandes;Andrea Weston
Journal journal of energy chemistry
Year 2017
DOI
10.1016/j.scr.2017.02.017
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