Description:
PARKINSON DISEASE
PD
|
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
|
White
|
|
Ethnicity
|
Not Hispanic/Latino
|
|
Country of Origin
|
USA
|
|
Family History
|
Y
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
| Gene |
LRRK2 |
| Chromosomal Location |
12q12 |
| Allelic Variant 1 |
; |
| Identified Mutation |
THR2356ILE; Johnson, et al, Comprehensive Screening of a North American Parkinson's Disease Cohort for LRRK2 Mutation, Neurodegenerative Diseases (2007). |
| Johnson J, Paisán-Ruíz C, Lopez G, Crews C, Britton A, Malkani R, Evans EW, McInerney-Leo A, Jain S, Nussbaum RL, Foote KD, Mandel RJ, Crawley A, Reimsnider S, Fernandez HH, Okun MS, Gwinn-Hardy K, Singleton AB, Comprehensive Screening of a North American Parkinson's Disease Cohort for LRRK2 Mutation Neuro-degenerative diseases4:386-91 2007 |
| PubMed ID: 17622782 |
| 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 |
- |
|
|