title: Generation of a clonal induced pluripotent stem cell (iPSC) line expressing the mutant MECP2 allele from a Rett Syndrome patient fibroblast line.
abstract: Human fibroblast cells collected from a 3-year old, female Rett Syndrome patient with a 32bp 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.
authors.affiliation: Bristol-Myers Squibb, GDD, 5 Research Parkway, Wallingford, CT 06492, United States. Electronic address: davidlisahunihan@cox.net.
authors.forename: Lisa
authors.initials: L
authors.lastname: Hunihan
authors.affiliation: Alexion, Discovery Cambridge, 75 Sidney St., Cambridge, MA 02139, United States.
authors.forename: Jeffrey
authors.initials: J
authors.lastname: Brown
authors.affiliation: Fulcrum Therapeutics, 1 Kendall Square, Cambridge, MA 02139, United States.
authors.forename: Angela
authors.initials: A
authors.lastname: Cacace
authors.affiliation: Bristol-Myers Squibb, GDD, 5 Research Parkway, Wallingford, CT 06492, United States.
authors.forename: Alda
authors.initials: A
authors.lastname: Fernandes
authors.affiliation: Primary Pharmacology Group, Pfizer, Eastern Point Road, Groton, CT 06340, United States.
authors.forename: Andrea
authors.initials: A
authors.lastname: Weston
mesh_terms: D000483:Alleles; D002454:Cell Differentiation; D002460:Cell Line; D065150:Cellular Reprogramming; D002675:Child, Preschool; D058732:Embryoid Bodies / Q000378:metabolism / Q000473:pathology; D005260:Female; D005347:Fibroblasts / Q000166:cytology / Q000378:metabolism; D017353:Gene Deletion; D005822:Genetic Vectors / Q000235:genetics / Q000378:metabolism; D005838:Genotype; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000166:cytology* / Q000378:metabolism; D059785:Karyotype; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D015518:Rett Syndrome / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D029082:Sendai virus / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism
chemical_list: D051783:Methyl-CpG-Binding Protein 2; D014157:Transcription Factors