E-MTAB-2223 - Transcription profiling by array of induced pluripotent cell clones expressing either wild-type or mutated CDKL5 gene to study the gene's role in transcriptional regulation

Status
Last updated on 3 June 2014, released on 2 July 2014
Organism
Homo sapiens
Samples (4)
Array (1)
Protocols (5)
Description
Mutations in the human CDKL5 gene have been associated with early onset seizure variant of Rett Syndrome. In order to investigate the potential involvement of CDKL5 in the regulation of gene expression, we compared expression profiles in WT vs CDKL5-mutated IPS clones from two patients (one male and one female) with different mutations using two-colour microarray experiments. For the female patient (CDKL5 mutation p.Gln347X) we compared one clone expressing the mutant CDKL5 allele to another clone from the same patient that expresses the wild-type allele. Maintenance of X chromosome inactivation and the resulting mono-allelic expression of CDKL5 were confirmed by androgen receptor assay and direct sequencing of CDKL5 mRNA. The clone derived from the male patient (CDKL5 mutation p.Thr288Ile) was compared to a clone derived from a normal newborn male. For each mutant/control pair four technical replicates were performed for a total of eight chip hybridizations.
Experiment types
transcription profiling by array, Expression comparison design
Contacts
Citations
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells. Livide G, Patriarchi T, Amenduni M, Amabile S, Yasui D, Calcagno E, Lo Rizzo C, De Falco G, Ulivieri C, Ariani F, Mari F, Mencarelli MA, Hell JW, Renieri A, Meloni I. :195-201 (2015), Europe PMC 24916645
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS. Livide G, Patriarchi T, Amenduni M, Amabile S, Yasui D, Lo Rizzo C, De Falco G, Ulivieri C Ariani F, Mari F, Mencarelli MA, Hell J, Renieri A, Meloni I.
MIAME
PlatformsProtocolsVariablesProcessedRaw
Files
Investigation descriptionE-MTAB-2223.idf.txt
Sample and data relationshipE-MTAB-2223.sdrf.txt
Raw data (1)E-MTAB-2223.raw.1.zip
Array designA-AGIL-28.adf.txt
Links