PR002189 (Project)

Dcc Asset:

MW submission packet 20260310.zip

Processed File (Entity type)

Dcc:

Metabolomics

DCC (Entity type)

Child Project:

PPR00001

Project (Entity type)

Persistent Id:http://dx.doi.org/10.21228/M8P54B

Description:Phosphoglucomutase 1 (PGM1) plays a crucial role in linking glycolysis, glycogen metabolism, and glycosylation. Pathogenic variants in PGM1 cause a complex multisystem disease, associated with congenital disorder of glycosylation (PGM1-CDG) and lethal cardiac complications. While treatments exist for the glycosylation defect in PGM1-CDG, the cardiac symptoms persist. To investigate the cardiac-specific impact of PGM1 deficiency, we developed human-induced pluripotent stem cell-derived cardiomyocytes (iCMs) from PGM1-CDG individuals.

Results found

Linked to

	Label	Description
	SU003684 Subject (Entity type)	A subject produced as part of the PR002189 project
	SA388512 Biosample (Entity type)	A biosample from Metabolomics produced as part of the PR002189 project
	SA388515 Biosample (Entity type)	A biosample from Metabolomics produced as part of the PR002189 project
	SA388501 Biosample (Entity type)	A biosample from Metabolomics produced as part of the PR002189 project
	SA388513 Biosample (Entity type)	A biosample from Metabolomics produced as part of the PR002189 project
	SA388516 Biosample (Entity type)	A biosample from Metabolomics produced as part of the PR002189 project
	SA388506 Biosample (Entity type)	A biosample from Metabolomics produced as part of the PR002189 project
	SA388505 Biosample (Entity type)	A biosample from Metabolomics produced as part of the PR002189 project
	SA388507 Biosample (Entity type)	A biosample from Metabolomics produced as part of the PR002189 project
	SA388511 Biosample (Entity type)	A biosample from Metabolomics produced as part of the PR002189 project

SU003684

Subject (Entity type)

A subject produced as part of the PR002189 project

SA388512

Biosample (Entity type)