PXD011630-1

PXD011630 is an original dataset announced via ProteomeXchange.

Title	Identification of neurodevelopmental abnormalities including COMT deficiency in an isogenic hPSC model of Fragile X syndrome
Description	Fragile X Syndrome (FXS) is a neurodevelopmental disorder caused by epigenetic silencing of FMR1 and loss of FMRP expression. Here we describe the establishment of an isogenic human pluripotent embryonic stem cell model of FXS. Using CRISPR/Cas9 to introduce indels in exon 3 of FMR1 and result in complete loss of FMRP (FMR1KO). We show that FMRP-deficient neurons exhibit a number of phenotypic abnormalities including neurite outgrowth and branching deficits and impaired electrophysiological network activity as measured by multi-electrode arrays. RNA-Seq and proteome analysis of FMRP-deficient neurons revealed transcriptional dysregulation in pathways related to neurodevelopment, neurotransmission, and the cell cycle.
HostingRepository	PRIDE
AnnounceDate	2020-06-18
AnnouncementXML	Submission_2020-06-17_23:04:27.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Niels Henning Skotte
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	No PTMs are included in the dataset
Instrument	Q Exactive HF-X

Revision	Datetime	Status	ChangeLog Entry
0	2018-11-08 06:08:15	ID requested
⏵ 1	2020-06-17 23:04:28	announced
2	2024-10-22 05:07:25	announced	2024-10-22: Updated project metadata.

Dataset with its publication pending

submitter keyword: FXS, Isogenic, hPSC, Neuron, Proteomics, HF, Human

Mahmoud Pouladi
contact affiliation	Translational Laboratory in Genetic Medicine, Agency for Science, Technology and Research, Singapore (A*STAR), 8A Biomedical Grove, Immunos, Level 5, Singapore 138648
contact email	pouladi@thetlgm.com
lab head
Niels Henning Skotte
contact affiliation	University of Copenhagen
contact email	niels.skotte@cpr.ku.dk
dataset submitter

Dataset FTP location NOTE: Most web browsers have now discontinued native support for FTP access within the browser window. But you can usually install another FTP app (we recommend FileZilla) and configure your browser to launch the external application when you click on this FTP link. Or otherwise, launch an app that supports FTP (like FileZilla) and use this address: ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2020/06/PXD011630

PRIDE project URI

• PRIDE
  1. PXD011630
     1. Label: PRIDE project
     2. Name: Identification of neurodevelopmental abnormalities including COMT deficiency in an isogenic hPSC model of Fragile X syndrome