ND00196
LCL from B-Lymphocyte
Description:
PARKINSON DISEASE,FAMILIAL, TYPE 1; PARK1
PARKINSON DISEASE
SYNUCLEIN, ALPHA; SNCA
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Repository
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NINDS Repository
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| Subcollection |
Parkinsonism |
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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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MULTIGENERATIONAL FAMILIES - MORE THAN ONE AFFECTED
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Country of Origin
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USA
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Family Member
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7
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Family History
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Y
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Relation to Proband
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maternal first cousin
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Species
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Homo sapiens
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Common Name
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Human
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| Gene |
LRRK2 |
| Chromosomal Location |
12q12 |
| Allelic Variant 1 |
; WILDTYPE |
| Identified Mutation |
WILDTYPE for GLY2019 |
| |
| Gene |
SNCA |
| Chromosomal Location |
4q21 |
| Allelic Variant 1 |
163890.0003; PARKINSON DISEASE, TYPE 1; PARK1 |
| Identified Mutation |
TRIPLICATION; By quantitative PCR amplification of SNCA exons in an individual with parkinsonism from a family reported by Waters and Miller [Ann. Neurol. 35: 59-64 (1994)], Singleton et al. [Science 302: 841 (2003)] found evidence consistent with whole gene triplication. The triplicated region contains an estimated 17 genes, including SNCA. Carriers of the triplication are predicted to have 4 fully functional copies of SNCA, with doubling of the effective load of the estimated 17 genes. The authors suggested that increased dosage of SNCA is the cause of PD in this family, and noted that the disease process may resemble the etiology of Alzheimer disease in Down syndrome (190685) with overexpression of the APP gene due to chromosome 21 trisomy. |
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| Gene |
LRRK2 |
| Chromosomal Location |
12q12 |
| Allelic Variant 2 |
; WILDTYPE |
| Identified Mutation |
WILDTYPE for GLY2019 |
| Pitcairn C, Murata N, Zalon AJ, Stojkovska I, Mazzulli JR, Impaired Autophagic-Lysosomal Fusion in Parkinson's Patient Midbrain Neurons Occurs through Loss of ykt6 and Is Rescued by Farnesyltransferase Inhibition The Journal of neuroscience : the official journal of the Society for Neuroscience43:2615-2629 2022 |
| PubMed ID: 36788031 |
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| Stojkovska I, Wani WY, Zunke F, Belur NR, Pavlenko EA, Mwenda N, Sharma K, Francelle L, Mazzulli JR, Rescue of a-synuclein aggregation in Parkinson's patient neurons by synergistic enhancement of ER proteostasis and protein trafficking Neuron110:436-451.e11 2021 |
| PubMed ID: 34793693 |
| 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 |
- |
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