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ND07126
LCL
from
B-Lymphocyte
Description:
INTRACRANIAL ANEURYSM - UNRUPTURED
INTRACRANIAL ANEURYSM, UNRUPTURED: CAUCASIAN
Affected:
Yes
Gender:
Female
Age:
53
YR
(At Sampling)
Sample Description
Overview
Phenotypic Data
External Links
Images
Culture Protocols
Overview
Repository
NINDS Repository
Subcollection
Cerebrovascular Disease
Biopsy Source
Peripheral vein
Cell Type
B-Lymphocyte
Tissue Type
Blood
Transformant
Epstein-Barr Virus
Sample Source
LCL from B-Lymphocyte
Race
White
Subject Type
family with at least 3 members, including 1 proband, not a trio
Family Type
MULTIGENERATIONAL FAMILIES - MORE THAN ONE AFFECTED
Ethnicity
Not Hispanic/Latino
Country of Origin
USA
Family Member
1
Family History
N
Relation to Proband
proband
Species
Homo
sapiens
Common Name
Human
Phenotypic Data
Demographic Data
Relation to Proband
proband
Age at Sampling
53 YR
Gender
Female
Age of Onset(If not a control)
No Data
Age at Diagnosis(If not a control)
38 YR
Hispanic or Latino/Not Hispanic or Latino
Not Hispanic/Latino
Racial Category
White
Country
USA
Diagnosed By
No Data
Data Elements
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
3.7
Family History
Family history of Cerebrovascular Disease
present
absent
Unknown
Notes:
ANEURYSM
Family History of Aneurysm
present
absent
Unknown
Notes:
1 BLOOD RELATIVE KNOWN TO BE AFFECTED, ND09534 (NEPHEW)
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
TOAST criteria
ischemic stroke subtype based on TOAST
No Data
AVM subtype criteria
AVM type
No Data
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
No Data
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)
140/81
Other diagnosis
Parkinson's disease
yes
no
Alzheimer's disease
yes
no
Epilepsy
yes
no
Amyotrophic lateral sclerosis
yes
no
Dementia
yes
no
Optional data
State Examination (MMSE) score
No Data
Neurological examination
No Data
Handedness
No Data
External Links
Gene Cards
ANIB1
NCBI Gene
Gene ID:116833
NCBI GTR
105800 ANEURYSM, INTRACRANIAL BERRY, 1; ANIB1
OMIM
105800 ANEURYSM, INTRACRANIAL BERRY, 1; ANIB1
Omim Description
ANEURYSM, INTRACRANIAL BERRY
ANEURYSMAL SUBARACHNOID HEMORRHAGE, FAMILIAL
Images
View
pedigree
Culture Protocols
Temperature
37 C
Percent CO2
5%
Percent O2
AMBIENT
Medium
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum
15% fetal bovine serum Not Inactivated
Substrate
None specified
Subcultivation Method
dilution - add fresh medium
Supplement
-
Pricing
Commercial:
$0.00
USD
Academic &
Non-profit:
$0.00
USD
Add to Cart
How to Order
Ordering Instructions
MTA / Assurance Form
Statement of Research Intent Form
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