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ND39589
LCL
from
B-Lymphocyte
Description:
CEREBRAL CAVERNOUS MALFORMATIONS
Affected:
Yes
Gender:
Female
Age:
9
YR
(At Sampling)
Sample Description
Overview
Phenotypic Data
Publications
External Links
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
NUCLEAR FAMILIES - MORE THAN ONE AFFECTED
Ethnicity
Hispanic/Latino
Country of Origin
USA
Family Member
2
Family History
N
Relation to Proband
sister
Species
Homo
sapiens
Common Name
Human
Phenotypic Data
Demographic Data
Relation to Proband
sister
Age at Sampling
9 YR
Gender
Female
Age of Onset(If not a control)
2 YR
Age at Diagnosis(If not a control)
5 YR
Hispanic or Latino/Not Hispanic or Latino
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
No Data
Family History
Family history of Cerebrovascular Disease
present
absent
Unknown
Notes:
CCM (FATHER, 2 BROTHERS)
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
Notes:
CCM1-CHM
Medical History
Hypertension treated with medication
yes
no
Blood pressure (at time of blood draw)
74/43
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
Right
Left
Ambidextrous
Montreal Cognitive Assessment(MoCA) score
No Data
Clinical Element Type: Cerebral Cavernous Malformation (CCM)
(Baseline)
Family History
Family History of CCM:
Present
Absent
Unknown
If present, list family members:
FATHER, 2 BROTHERS
Known Genetic Syndrome:
Present
Absent
Unknown
Please Specify, if applicable:
No Data
Known Mutation(s) in DNA:
Present
Absent
Unknown
Please specify, if applicable:
CCM1-CHM
Diagnostic Criteria
Number of CCM lesions on MRI:
Single
Multiple
Age at MRI:
9 YEARS
Presentation at symptom onset:
Seizure
Headache
Clinical Stroke
Asymptomatic
Modified Rankin Score:
0
1
2
3
4
5
6
Optional Data
Smoking History:
Never
Previous
Current
Years Smoking, if applicable:
No Data
Handedness:
Left
Right
Ambidextrous
Publications
Dao L, You Z, Lu L, Xu T, Sarkar AK, Zhu H, Liu M, Calandrelli R, Yoshida G, Lin P, Miao Y, Mierke S, Kalva S, Zhu H, Gu M, Vadivelu S, Zhong S, Huang LF, Guo Z
, Modeling blood-brain barrier formation and cerebral cavernous malformations in human PSC-derived organoids Cell stem cell31:818-833.e11 2023
PubMed ID:
38754427
External Links
NCBI GTR
116860 CEREBRAL CAVERNOUS MALFORMATIONS; CCM
OMIM
116860 CEREBRAL CAVERNOUS MALFORMATIONS; CCM
Omim Description
CAVERNOUS ANGIOMA, FAMILIAL
CAVERNOUS ANGIOMATOUS MALFORMATIONS; CAMCAVERNOUS MALFORMATIONS OF CNS AND RETINA, INCLUDED
CEREBRAL CAVERNOUS MALFORMATIONS 1; CCM1
HEMANGIOMA, CAVERNOUS, OF BRAIN
Culture Protocols
Split Ratio (Frequency)
1:2 (4 Days)
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
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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