Coriell Institute for Medical Research
Request a Quote
Careers
Login
View Cart
Samples
OR
Website
Search Help
Browse our Catalog
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
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
Fibroblast Cultures
Lymphoblast Cultures
DNA Samples
RNA Samples
NIA mESC
AICS fluorescently tagged hiPSC
Adipose Stromal Cultures
Melanocyte Cultures
Keratinocyte Cultures
Mammary Epithelial Cultures
Amniotic Fluid-Derived Cultures
Endothelial and Smooth Muscle Cultures
Mesothelial Cultures
Myoblast Cultures
EBV Protocol
Cell Culture Medium
Passage vs PDL
Fetal Bovine Serum
ISCN Nomenclature
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
ND48092
DNA
from
Whole Blood
Description:
HEREDITARY HEMORRHAGIC TELANGIECTASIA
Affected:
Yes
Gender:
Female
Age:
10
YR
(At Sampling)
Sample Description
Overview
Phenotypic Data
External Links
Repository
NINDS Repository
Subcollection
Cerebrovascular Disease
Quantity
3 µg
Quantitation Method
Please see our
FAQ
Biopsy Source
Peripheral vein
Sample Source
DNA from Whole Blood
Race
White
Subject Type
family with at least 3 members, including 1 proband, not a trio
Family Type
NUCLEAR FAMILIES - MORE THAN ONE AFFECTED
Ethnicity
Not Hispanic/Latino
Country of Origin
USA
Family Member
3
Family History
N
Relation to Proband
daughter
Species
Homo
sapiens
Common Name
Human
Note
This material represents a finite resource (DNA from Whole Blood)
Demographic Data
Relation to Proband
daughter
Age at Sampling
10 YR
Gender
Female
Age of Onset(If not a control)
No Data
Age at Diagnosis(If not a control)
1 MO
Hispanic or Latino/Not Hispanic or Latino
Not Hispanic/Latino
Racial Category
White
Country
USA
Diagnosed By
No Data
Data Elements
Clinical Element Type: Hereditary Hemorrhagic Telangiectasia (HHT)
(Baseline)
Smoking History
Smoking History:
Never
Previous
Current
Pack-years, if applicable:
No Data
Family History
Family History of HHT:
Present
Absent
Unknown
If Present, List Affected Family Members:
MOTHER, GRANDFATHER, GREATMOTHER
Diagnostic Criteria
HHT Clinical Diagnosis:
Definite
Possible
Uncertain
Unknown
HHT Mutation:
endoglin
alk1
smad4
unknown
HHT Specific Mutation:
C. 726C>A
Brain AVM Present:
Yes
No
Unknown
Other AVM Present
Pulmonary
Liver
Gastrointestinal
Other
If other, please specify
No Data
Notes:
No Data
Medical History
Hypertension
Present
Absent
Diabetes mellitus
Present
Absent
Atrial fibrillation
Present
Absent
Myocardial infarction
Present
Absent
Other Risk Factors:
No Data
Clinical Element Type: Cerebrovascular Disease
(Baseline)
Longitudinal Data
Is this data Longitudinal (Follow-Up) Data?
yes
no
Smoking History
smoking history
never
former smoker
current smoker
years smoking
No Data
Family History
Family history of Cerebrovascular Disease
present
absent
Unknown
Family History of Aneurysm
present
absent
Unknown
Aneurysm Location of affected Family Member
No Data
Specific diagnosis
Cerebrovascular diagnosis
silent cerebral infarction
transient ischemic attack
unruptured intracranial aneurysm
symptomatic ischemic stroke
symptomatic intracerebral hemorrhage
aneurysmal subarachnoid hemorrhage
vascular cognitive impairment
arteriovenous malformations (AVM)
other
Unaffected primary blood relative of proband
Cerebral Cavernous Malformation (CCM)
Hereditary Hemorrhagic Telangiectasia (HHT)
Prior Medical History
Pre-existing history of dementia
Present
Absent
Pre-hemorrhage history of ischemic stroke
Present
Absent
Not Applicable
TOAST criteria
ischemic stroke subtype based on TOAST
not applicable
AVM subtype criteria
AVM type
unruptured
ruptured
not applicable
Spetzler-Martin score
No Data
Size
No Data
AVM Location
No Data
Venous drainage
No Data
Drainage Location
cortical
subcortical/deep
posterior fossa
Confirmation of diagnosis
did a neurologist confirm the cerebrovascular diagnosis
yes
no
Medical History
hypertension
yes
no
diabetes mellitus
yes
no
atrial fibrillation
yes
no
myocardial infarction
yes
no
Other risk factors
yes
no
Genetic Data of Subject
Mutation/s in subject's DNA (if present, describe)
present
absent
unknown
Medical History
Hypertension treated with medication
yes
no
Blood pressure (at time of blood draw)
No Data
Other diagnosis
Parkinson's disease
yes
no
Alzheimer's disease
yes
no
Epilepsy
yes
no
Amyotrophic lateral sclerosis
yes
no
Dementia
yes
no
Other Neurological Diagnosis(es)
yes
no
Optional data
State Examination (MMSE) score
No Data
Neurological examination
yes
no
Handedness
No Data
Montreal Cognitive Assessment(MoCA) score
No Data
No data is available
NCBI GTR
187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1
OMIM
187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1
Omim Description
ORW DISEASE
OSLER-RENDU-WEBER DISEASE
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER;HHT
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE I; HHT1
No data is available
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
Related Products
Same Family
NINDS6071