Repository details

Cystic Fibrosis Mutation Database

Name of repository
Cystic Fibrosis Mutation Database
Additional name(s)
  • CFTR1
  • CFMDB
Repository URL
http://www.genet.sickkids.on.ca/cftr/app
Subject(s)
Description
The Cystic Fibrosis Mutation Database (CFTR1) was initiated by the Cystic Fibrosis Genetic Analysis Consortium in 1989 to increase and facilitate communications among CF researchers, and is maintained by the Cystic Fibrosis Centre at the Hospital for Sick Children in Toronto. The specific aim of the database is to provide up to date information about individual mutations in the CFTR gene. In a major upgrade in 2010, all known CFTR mutations and sequence variants have been converted to the standard nomenclature recommended by the Human Genome Variation Society.
Contact
Content type(s)
Keyword(s)
Persistent identifier(s) of the repository
  • RRID:nif-0000-21105
  • RRID:SCR_000685
Repository size
2.110 mutations
Repository type(s)
  • disciplinary
Mission statement for designated community
http://www.genet.sickkids.on.ca/cftr/ConsortiumBackgroundPage.html
Research data repository language(s)
  • English
Data and/or service provider
  • data provider
Institution name
The Hospital for Sick Children, Cystic Fibrosis Centre
Contact(s)
Country
Canada
Type(s) of responsibility
  • general
Type of institution
non-profit
Institution name
The Hospital for Sick Children, The Centre for Applied Genomics
Additional name(s)
  • TCAG
Country
Canada
Type(s) of responsibility
  • technical
Type of institution
non-profit

Policies (5)

Policy Name
Notice and Disclaimer/Limitation of Liability of Database Use
Policy Name
TCAG Facilities Terms and Conditions
Policy Name
TCAG Facilities Terms and Conditions download
Policy Name
Guidelines of Cystic Fibrosis Consortium
Policy Name
SickKids Terms of Use

Database access

Type of access to research data repository
open

Data access (1)

Type of access to data
open

Data licenses (1)

DataLicense
other

Data upload (1)

Type of data upload
restricted
Data upload restriction type(s)
  • other
Persistent identifier system(s)
  • none
Enhanced Publication
yes
Quality management
yes

Metadata standards (1)

Metadata standard name
Repository-Developed Metadata Schemas
Metadata standard scheme
DCC

Remarks

Entry date
2016-07-27
Last update
2022-12-14
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Cite this re3data.org record:

re3data.org: Cystic Fibrosis Mutation Database; editing status 2022-12-14; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R38356 last accessed: 2024-04-19