Coriell Institute for Medical Research
Request a Quote
Careers
Login
View Cart
Samples
OR
Website
Search Help?
Sample Catalog
|
Custom Services
|
Core Facilities
|
Genomic Data Search
Navigation Header
Biobank
NIGMS
NINDS
NIA
NHGRI
Allen Cell Collection
Rett Syndrome iPSC Collection
Autism Research Resource
HD Community Biorepository
CDC Cell and DNA
NEI
J. Craig Venter Institute
Orphan Disease Center Collection
Phase Clinical Services
All Biobanks
Research
Overview
Meet Our Scientists
Our Faculty
Our Scientific Staff
Camden Cancer Research Center
Epigenetic Therapies SPORE
Core Facilities
Epigenomics
Camden Opioid Research Initiative (CORI)
The Issa & Jelinek Lab
The Jian Huang Lab
The Luke Chen Lab
The Lab
The Team
Publications
The Scheinfeldt Lab
The Shumei Song Lab
The Nora Engel Lab
The Lab
The Team
Publications
Coriell Personalized Medicine Collaborative (CPMC)
Publications
Services
Stem Cells
Core Facilties
Overview
Animal and Xenograft
Bioinformatics
Cell Imaging
CRISPR Gene Engineering
Flow Cytometry and Cell Sorting
Genomics and Epigenomics
iPSC - Induced Pluripotent Stem Cells
Organoids
Biobanking and Distribution
Biobanking
Biological and Pharmaceutical Storage
Collection Kits
Coriell Marketplace
Research Support Services
Sample Procurement
Cellular and Molecular Analysis
Genomic and Epigenomic Services
Nucleic Acid Isolation and Quality Control
Customized Experimental Design and Research Solutions
Biomarkers
Cell Culture
Research and Development Models
Browse
Stem Cells
Cell Lines
DNA and RNA
Featured Products
FFPE
HMW DNA
Genomic Data Search
Diseases
Rare Diseases
Species
Gene Variants, Mutations
Notable Collections
GRC
REGARDS
Amish Major Affective Disorders
Longevity Research
Search by Catalog ID
Search Help
Ordering
Create Account
Order Online
Ordering FAQ
FAQs/Culture Instructions
Reference Materials
Biobanks
NIGMS Repository
NHGRI Repository
NINDS Repository
NIA Repository
NIST
GeT-RM
MTA Assurance Form
Shipment Policy
Contact Customer Service
Donate
Our Message
Your Impact
Giving FAQs
Make a Donation
About Us
Our History
Meet Our Team
Meet Our Board
Education
Science Fair
Summer Experience
Outreach
Research Program Internship
Press Room
Press Releases
Coriell Blog
Annual Report
Careers
Working at Coriell
Current Openings
Giving
Our Message
Your Support in Action
Giving FAQ
Giving Tuesday
Contact Us
Legal Notice
Login
View Cart
search submit
ND42400
DNA
from
Whole Blood
Description:
SEGMENTAL DYSTONIA
Affected:
Yes
Gender:
Female
Age:
29
YR
(At Sampling)
Sample Description
Overview
Phenotypic Data
Overview
Repository
NINDS Repository
Subcollection
Dystonia
Quantity
3 µg
Quantitation Method
Please see our
FAQ
Biopsy Source
Peripheral vein
Sample Source
DNA from Whole Blood
Race
Black/African American
Country of Origin
USA
Family History
N
Species
Homo
sapiens
Common Name
Human
Note
This material represents a finite resource (DNA from Whole Blood)
Phenotypic Data
Demographic Data
Relation to Proband
No Data
Age at Sampling
29 YR
Gender
Female
Age of Onset(If not a control)
20 YR
Age at Diagnosis(If not a control)
No Data
Hispanic or Latino/Not Hispanic or Latino
not yet reported
Racial Category
Black/African American
Country
USA
Diagnosed By
No Data
Data Elements
Clinical Element Type: Dystonia
(Baseline)
Other Race info
Additional Race Information
No Data
Medical History
Primary Dystonia type
Segmental Dystonia
Hemi Dystonia
No Data
Focal Dystonia
No Data
Segmental Dystonia
No Data
Other dystonia syndrome
No
Please Specify
No Data
Non-dystonia syndrome
No
Please Specify
No Data
Documented causal Gene
unknown
Documented Gene
TOR1A (DYT1)
TAF1 (DYT3)
GCH1 (DYT5A, DYT14)
TH (DYT5B)
THAP1 (DYT6)
PNKD (DYT8)
SGCE (DYT11)
ATP1A3 (DYT12)
PRKRA (DYT16)
SLC2A1 (DYT18)
Other Gene
Other Gene mutation present
No Data
Initial Areas of Onset
Onset at Foot
no
Foot affected
Left
Right
Onset at Hand
no
Hand affected
Left
Right
Onset at Jaw
no
Onset at Larynx
no
Onset at lower Face
no
Lower Face affected
Left
Right
Onset at Neck
yes
Onset at Pelvis
no
Onset at Shoulder
no
Shoulder affected
Left
Right
Onset at Tongue
no
Onset at Trunk
no
Onset at upper Arm
no
Upper Arm affected
Left
Right
Onset at upper Face
no
Upper Face affected
Left
Right
Onset at upper Leg
no
Upper Leg affected
Left
Right
Onset task specific
no
Tasks
Sports Related Cramp
Writers Cramp
Typists Cramp
Musicians Cramp
Speech related dystonia (spasmodic dysphonia)
Other Cramp
Other tasks(Specify)
No Data
Dystonia had abrupt onset (less than 1 week)
yes
Dystonia was fixed at onset
no
Psychiatric disorder present
no
Type of Psychiatric disorder
Depression
Anxiety related disorders
Other Psychiatric conditions
Other types of Psychiatric disorders present
No Data
Sites Currently Affected
Foot Dystonia present
no
Foot affected
Left
Right
Hand Dystonia present
yes
Hand affected
Left
Right
Jaw Dystonia present
no
Larynx Dystonia present
no
Lower Face Dystonia present
no
Lower Face affected
Left
Right
Neck Dystonia present
yes
Pelvic Dystonia Present
no
Shoulder Dystonia Present
no
Shoulder affected
Left
Right
Tongue Dystonia present
no
Trunk Dystonia present
no
Upper Arm Dystonia present
no
Upper Arm affected
Left
Right
Upper Face Dystonia present
no
Upper Face affected
Left
Right
Upper Leg Dystonia present
no
Upper Leg affected
Left
Right
Foot tremor
no
Foot tremor type
No Data
Hand tremor present
yes
Hand tremor type
Irregular/jerky
Jaw tremor present
no
Jaw tremor type
No Data
Lower Face Tremor
no
Lower Face tremor type
No Data
Neck tremor present
yes
Neck tremor type
Irregular/jerky
Pelvis tremor present
no
Pelvis tremor type
No Data
Shoulder tremor present
no
Shoulder tremor type
No Data
Tongue tremor
no
Tongue tremor type
No Data
Trunk tremor present
no
Trunk tremor type
No Data
Upper Arm tremor present
no
Upper Arm tremor type
No Data
Upper Face tremor present
no
Upper Face tremor type
No Data
Upper Leg tremor present
no
Upper Leg tremor type
No Data
Examination
Abductor
no
Adductor
no
Muscular tension Dysphonia
no
Atypical Dysphonia
no
Laryngeal tremor
no
Confirmed by nasopharyngeoscopy
no
Tremor preceded Dystonia on onset
no
Myoclonus
no
Parkinsonism
no
Family History
Family history of Dystonia
no
Father Affected?
Unaffected
Mother Affected?
Unaffected
Sisters unknown
0
Sisters unaffected
0
Sisters affected
0
Brothers unknown
0
Brothers unaffected
0
Brothers affected
0
Daughters unknown
0
Daughters unaffected
0
Daughters affected
0
Sons unknown
0
Sons unaffected
0
Sons affected
0
Documented causal Gene
unknown
Documented Gene
TOR1A (DYT1)
TAF1 (DYT3)
GCH1 (DYT5A, DYT14)
TH (DYT5B)
THAP1 (DYT6)
PNKD (DYT8)
SGCE (DYT11)
ATP1A3 (DYT12)
PRKRA (DYT16)
SLC2A1 (DYT18)
OtherGene
Other Gene Mutation present
No Data
Family consanguinity
no
Family pedigree
No Data
Family Member(s) with Tremor
no
Family Member(s) with Myoclonus
no
Family Member(s) with Parkinson disease or Parkinsonism
no
Family Member(s) with Other disorder(s)
no
Other disorders(if yes Specify)
No Data
Culture Protocols
Supplement
-
Pricing
Commercial and Non-U.S.:
$0.00
USD
U.S. Academic or
Non-profit:
$0.00
USD
NINDS Repository Submitter (past or current) and/or Current NINDS Grantee
$0.00
USD
Add to Cart
How to Order
Ordering Instructions
MTA / Assurance Form
Statement of Research Intent Form