Repository details
The Lafora Progressive Myoclonus Epilepsy Mutation and Polymorphism Database
Name of repository
The Lafora Progressive Myoclonus Epilepsy Mutation and Polymorphism Database
Additional name(s)
- The Lafora Database
Repository URL
Subject(s)
Description
A curated database of mutations and polymorphisms associated with Lafora Progressive Myoclonus Epilepsy. The Lafora progressive myoclonus epilepsy mutation and polymorphism database is a collection of hand curated mutation and polymorphism data for the EPM2A and EPM2B (NHLRC1) from publicly available literature: databases and unpublished data. The database is continuously updated with information from in-house experimental data as well as data from published research studies.
Contact
- jmacdonald@sickkids.ca
Keyword(s)
Repository size
190 mutation entries
Repository type(s)
- disciplinary
Mission statement for designated community
Research data repository language(s)
- English
Data and/or service provider
- data provider
Institution name
Additional name(s)
- CIHR
- Instituts de recherche en santé du Canada
- IRSC
Identifier(s)
- ROR:01gavpb45
Contact(s)
Country
Type(s) of responsibility
- funding
Type of institution
non-profit
Institution name
Additional name(s)
- Génome Canada
Identifier(s)
- ROR:029s29983
Contact(s)
Country
Type(s) of responsibility
- funding
Type of institution
non-profit
Institution name
Additional name(s)
- HHMI
Identifier(s)
- ROR:006w34k90
Contact(s)
Country
Type(s) of responsibility
- funding
Type of institution
non-profit
Institution name
Additional name(s)
- Health Sciences Centre Foundation
Contact(s)
Country
Type(s) of responsibility
- funding
Type of institution
non-profit
Institution name
Additional name(s)
- HSC, TCAG
- SickKids, TCAG
Identifier(s)
- RRID:SCR_001840
- RRID:nif-0000-12519
Contact(s)
Country
Type(s) of responsibility
- technical
- general
Type of institution
non-profit
Policies (2)
Policy Name
Policy Name
Database access
Type of access to research data repository
open
Data access (1)
Type of access to data
open
Data licenses (1)
DataLicense
Data upload (1)
Type of data upload
open
Data upload license (1)
Data upload license name
Persistent identifier system(s)
- none
Name of the repository software
- other
Enhanced Publication
yes
Quality management
unknown
Remarks
Entry date
2016-08-22
Last update
2023-06-01
Cite this re3data.org record:
re3data.org: The Lafora Progressive Myoclonus Epilepsy Mutation and Polymorphism Database; editing status 2023-06-01; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3464M last accessed: 2024-04-25- Current projects
- EOSC FAIR-IMPACT
- re3data COREF
-
To the extent possible under law,
re3data.org
has waived all copyright and related or neighboring rights to
the database entries of re3data.org.
-
Except where otherwise noted, content on this site is licensed under a
Creative Commons Attribution 4.0 International License
.
- Cite this service: re3data.org - Registry of Research Data Repositories. https://doi.org/10.17616/R3D last accessed: 2024-04-25
