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ND00227
DNA
from
LCL
Description:
PARKINSON DISEASE
PD
Affected:
Yes
Gender:
Female
Age:
26
YR
(At Sampling)
Sample Description
Overview
Characterizations
Phenotypic Data
External Links
Repository
NINDS Repository
Subcollection
Parkinsonism
Quantity
20 µg
Quantitation Method
Please see our
FAQ
Biopsy Source
Peripheral vein
Cell Type
B-Lymphocyte
Tissue Type
Blood
Transformant
Epstein-Barr Virus
Sample Source
DNA from LCL
Race
Unknown
Ethnicity
Hispanic/Latino
Ethnicity
PUERTO RICAN
Country of Origin
USA
Family History
N
Species
Homo
sapiens
Common Name
Human
Gene
LRRK2
Chromosomal Location
12q12
Allelic Variant 1
; WILDTYPE
Identified Mutation
WILDTYPE for GLY2019
Gene
LRRK2
Chromosomal Location
12q12
Allelic Variant 2
; WILDTYPE
Identified Mutation
WILDTYPE for GLY2019
Demographic Data
Relation to Proband
No Data
Age at Sampling
26 YR
Gender
Female
Age of Onset(If not a control)
19 YR
Age at Diagnosis(If not a control)
No Data
Hispanic or Latino/Not Hispanic or Latino
Hispanic/Latino
Racial Category
Unknown
Country
USA
Diagnosed By
No Data
Data Elements
Clinical Element Type: Parkinsonism
(Baseline)
Longitudinal Data
Is this data Longitudinal (Follow-Up) Data?
yes
no
Family History
Family history of parkinsonism
present
absent
unknown (subject adopted)
Specific diagnosis
Parkinsonism clinical diagnosis
Parkinson's disease
Progressive Supranuclear Palsy
Diffuse Lewy Body Disease
Multiple System Atrophy
Others
Unaffected primary blood relative of proband
Genetic Data of Subject
Mutation/s in subject's DNA (if present, describe)
present
absent
unknown
Signs suggestive of PD diagnosis
Asymmetric onset
present
absent
Bradykinesis
present
absent
Activation tremor
present
absent
Resting Tremor
present
absent
Postural Instability
present
absent
Rigidity
present
absent
Gait difficulties
present
absent
Response to Anti-Parkinsonism Therapy
tried and responsive
inadequate dose
not tried/not given
tested and unresponsive
Signs suggestive of another diagnosis
history of strokes or stepwise deterioration
present
absent
history of head injury with loss of consciousness
present
absent
history of encephalitis
present
absent
Oculogyric crisis
present
absent
neuroleptic treatment at time of symptom onset
present
absent
sustained remission
present
absent
gaze palsy
present
absent
Cerebellar signs (other than activation tremor)
No Data
Fluctuations
No Data
hallucinations
No Data
dysautonomia
present
absent
Memory loss
No Data
axial rigidity
No Data
Other
present
absent
Smoking History
smoking history
No Data
years smoking
No Data
Optional data
Mini-mental status score
No Data
Hoehn and Yahr
No Data
UPDRS total motor score
No Data
Handedness
No Data
No data is available
dbSNP
dbSNP ID: 21759
NCBI GTR
168600 PARKINSON DISEASE, LATE-ONSET; PD
OMIM
168600 PARKINSON DISEASE, LATE-ONSET; PD
Omim Description
PARKINSON DISEASE 1
PARKINSON DISEASE; PD
PARKINSONISM
No data is available
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 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
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ND00227 - B-Lymphocyte