GM15010 PARKINSON DISEASE,FAMILIAL, TYPE 1; PARK1 | SYNUCLEIN, ALPHA; SNCA B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM15010 PARKINSON DISEASE,FAMILIAL, TYPE 1; PARK1 | SYNUCLEIN, ALPHA; SNCA B-Lymphocyte Cell Line
家族性帕金森病 1 型；公园1 |突触核蛋白、α； SNCA细胞株
Description描述：Onset at age 30; resting tremor; masklike facies; shuffling gait; postural instability; dyskinesias with on/off phenomenon; dopamine responsive; father and 2 paternal aunts were affected; affected cousins are GM15009 and GM15844; molecular characterization of this family found evidence consistent with whole gene triplication with the triplicated region containing an estimated 17 genes, including SNCA; carriers of the triplication are predicted to have 4 fully functional copies of SNCA, the increased dosage of SNCA suggested as the cause of PD in this family; this sample was formerly classified as PARK4 [605543].
Category分类：B-Lymphocyte
ID编号:NTCC®-GM15010
Size/Quantity数量: 1 Flask/2 Vials
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT/Dry Ice
Storage储存方式: RT/Liquid Nitrogen
Race: White
Age年龄:38 YR
Gender性别:Female
Cell Type细胞类型: PARKINSON DISEASE,FAMILIAL, TYPE 1; PARK1 | SYNUCLEIN, ALPHA; SNCA
Affected State:Yes
Product:LCL
Gene:SNCA
Mutations突变:TRIPLICATION
Ethnicity:
Family:1844
Relationship:maternal first cousin
Karyotype:
Tissue Type组织来源:Blood
Complete Growth Medium完全培养基: BioVector® Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent Complete Medium
Subculturing传代方法:
Cryopreservation冻存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培养条件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鉴定数据:
References参考文献:

Supplier供应商:BioVector质粒载体菌株细胞蛋白抗体基因保藏中心
NTCC典型培养物保藏中心
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