PXD061845-1

PXD061845 is an original dataset announced via ProteomeXchange.

Title	COS7 GlyT2 variants associated with hyperekplexia
Description	Multiplexed LC-MS/MS analysis of heterologous cells expressing a new GlyT2 variant found in an infantile patient diagnosed with hyperekplexia.
HostingRepository	PRIDE
AnnounceDate	2025-08-04
AnnouncementXML	Submission_2025-08-03_16:08:20.569.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Emilio Camafeita
SpeciesList	scientific name: Chlorocebus sabaeus; NCBI TaxID: 60711;
ModificationList	No PTMs are included in the dataset
Instrument	Orbitrap Fusion

Revision	Datetime	Status	ChangeLog Entry
0	2025-03-14 08:20:06	ID requested
⏵ 1	2025-08-03 16:08:21	announced

10.3390/ijms26146753;

Sarmiento-Jim, é, nez J, Felipe R, N, ú, ñ, ez E, Ferrando-Mu, ñ, oz A, Benito-Mu, ñ, oz C, Gago F, V, á, zquez J, Camafeita E, Clement E, Wilson B, L, ó, pez-Corcuera B, A New GlyT2 Variant Associated with Hyperekplexia. Int J Mol Sci, 26(14):(2025) [pubmed]

submitter keyword: CO7 cells, GlyT2 variants

Jesús Vázquez
contact affiliation	Laboratorio de Proteómica Cardiovascular Centro Nacional de Investigaciones Cardiovasculares
contact email	jvazquez@cnic.es
lab head
Emilio Camafeita
contact affiliation	Proteomics Unit Vascular Pathophysiology Area CNIC
contact email	ecamafeita@cnic.es
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/2025/08/PXD061845

PRIDE project URI

• PRIDE
  1. PXD061845
     1. Label: PRIDE project
     2. Name: COS7 GlyT2 variants associated with hyperekplexia