ND01137
LCL from B-Lymphocyte
Description:
PARKINSON DISEASE
PD
|
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
|
Black/African American
|
|
Subject Type
|
family with at least 3 members, including 1 proband, not a trio
|
|
Family Type
|
NUCLEAR FAMILIES - 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
|
| 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 |
| Álvarez Jerez P, Wild Crea P, Ramos DM, Gustavsson EK, Radefeldt M, Damianov A, Makarious MB, Ojo OO, Billingsley KJ, Malik L, Daida K, Bromberek S, Hu F, Schneider Z, Surapaneni AL, Stadler J, Rizig M, Morris HR, Pantazis CB, Leonard HL, Screven L, Qi YA, Nalls MA, Bandres-Ciga S, Hardy J, Houlden H, Eng C, Burchard EG, Kachuri L, Lin CH, Black DL, Global Parkinson’s Genetics Program (GP2) DL, Singleton AB, Fischer S, Bauer P, Reed X, Ryten M, Beetz C, Ward M, Okubadejo NU, Blauwendraat C, African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1 Nature structural & molecular biology31:1955-1963 2024 |
| PubMed ID: 39668204 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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 |
- |
|
|