ND00264
LCL from B-Lymphocyte
Description:
PARKINSON DISEASE
LEUCINE-RICH REPEAT KINASE2; LRRK2
PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES
PD
PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES
|
Repository
|
NINDS Repository
|
| Subcollection |
Parkinsonism |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
White
|
|
Country of Origin
|
USA
|
|
Family History
|
N
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
| Gene |
LRRK2 |
| Chromosomal Location |
12q12 |
| Allelic Variant 1 |
609007.0006; PARKINSON DISEASE 8 |
| Identified Mutation |
GLY2019SER; In affected members of 4 of 61 (6.6%) unrelated families with autosomal dominant Parkinson disease (607060), Di Fonzo et al. [Lancet 365: 412-415 (2005)] identified a heterozygous 6055G-A transition in exon 41 of the LRRK2 gene, resulting in a gly2019-to-ser (G2019S) substitution. Two families were from Italy, and one each were from Portugal and Brazil. The gly2019 residue gly2019 residue is part of a highly conserved DFG-like motif (DYG in LRRK2) at the N terminus of the kinase activation segment of the protein. As residues in and around the DFG-like motif are important for proper positioning of magnesium and phosphates, mutations in this area may impair kinase activity. |
| Pena N, Richbourg T, Gonzalez-Hunt CP, Qi R, Wren P, Barlow C, Shanks NF, Carlisle HJ, Sanders LH, G2019S selective LRRK2 kinase inhibitor abrogates mitochondrial DNA damage NPJ Parkinson's disease10:49 2023 |
| PubMed ID: 38429321 |
| |
| Edwards TL, Scott WK, Almonte C, Burt A, Powell EH, Beecham GW, Wang L, Züchner S, Konidari I, Wang G, Singer C, Nahab F, Scott B, Stajich JM, Pericak-Vance M, Haines J, Vance JM, Martin ER., Genome-Wide Association Study Confirms SNPs in SNCA and the MAPT Region as Common Risk Factors for Parkinson Disease Annals of Human Genetics74(2):97-109 2010 |
| PubMed ID: 20070850 |
| |
| Fung HC, Scholz S, Matarin M, Simón-Sánchez J, Hernandez D, Britton A, Gibbs JR, Langefeld C, Stiegert ML, Schymick J, Okun MS, Mandel RJ, Fernandez HH, Foote KD, Rodríguez RL, Peckham E, De Vrieze FW, Gwinn-Hardy K, Hardy JA, Singleton A, Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data Lancet neurology5:911-6 2006 |
| PubMed ID: 17052657 |
| Split Ratio (Frequency) |
1:4 (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 |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
|
|