NTCC® NA15009 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA15009

Name：NTCC® NA15009 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA15009
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄: 37 YR
Gender性别: Male
Description描述: PARKINSON DISEASE,FAMILIAL, TYPE 1; PARK1 | SYNUCLEIN, ALPHA; SNCA
Remarks: Onset at age 24; severe bradykinesia; dopamine responsive; resting tremor; rigidity; unable to speak; fed through PEG tube; slow walk; needs assistance to stand; mother and maternal uncle and aunt were affected; affected cousins are GM15010 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]; this sample is also included in the NINDS Repository (ND00196) with additional family members
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: SNCA
Disease疾病类型:
Mutations突变: TRIPLICATION
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
Origin:
Transformants:
Alias别名:
Images图片:
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
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net