Description:
PARKIN; PARK2
PARKINSON DISEASE, JUVENILE, AUTOSOMAL RECESSIVE; PDJ
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Repository
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NINDS Repository
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| Subcollection |
Parkinsonism |
| Quantity |
20 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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White
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Subject Type
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family with at least 3 members, including 1 proband, not a trio
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Family Type
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NUCLEAR FAMILIES - ONE AFFECTED
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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TURKISH
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Country of Origin
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USA
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Family Member
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1
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Family History
|
Y
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Relation to Proband
|
proband
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Species
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Homo sapiens
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Common Name
|
Human
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| Gene |
PARK2 |
| Chromosomal Location |
6q25.2-q27 |
| Allelic Variant 1 |
602544.0002; PARKINSON DISEASE, JUVENILE, AUTOSOMAL RECESSIVE |
| Identified Mutation |
EX4DEL; In 4 patients with autosomal recessive juvenile parkinsonism (600116) from 3 unrelated families, Kitada et al. [Nature 392: 605-608 (1998)] demonstrated a deletion affecting only exon 4 of the parkin gene. |
| |
| 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 |
| |
| Gene |
PARK2 |
| Chromosomal Location |
6q25.2-q27 |
| Allelic Variant 2 |
602544.0002; PARKINSON DISEASE, JUVENILE, AUTOSOMAL RECESSIVE |
| Identified Mutation |
EX4DEL; In 4 patients with autosomal recessive juvenile parkinsonism (600116) from 3 unrelated families, Kitada et al. [Nature 392: 605-608 (1998)] demonstrated a deletion affecting only exon 4 of the parkin gene. |
| Jiang H, Jiang Q, Liu W, Feng j, Parkin Suppresses the Expression of Monoamine Oxidases J Biol Chem281:8591-9 2006 |
| PubMed ID: 16455660 |
| |
| Dogu O, Johnson J, Hernandez D, Hanson M, Hardy J, Apaydin H, Ozekmekci S, Sevim S, Gwinn-Hardy k, Singleton A., A consanguineous Turkish family with early-onset Parkinson's disease an exon 4 parkin deletion Mov Disord19(7):812-6 2004 |
| PubMed ID: 15254940 |
| Split Ratio (Frequency) |
1:2 (5 Days) |
| 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 |
- |
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