NTCC® NA25291 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA25291

Name：NTCC® NA25291 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA25291
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: 4 YR
Gender性别: Male
Description描述: DOPAMINE TRANSPORTER DEFICIENCY SYNDROME; DTDS | SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, DOPAMINE), MEMBER 3; SLC6A3
Remarks: Clinically affected; onset of symptoms within the first few weeks after birth; diagnosed at 10 months of age with infantile Parkinsonism and dystonia; DAT1 deficiency; normal head size and growth; cranial nerves: symmetric smile but mild, mask-like facies; atrophy/wasting of temporalis muscles; slightly sunken eyes; no tongue atrophy or fasciculation; continual rapid dystonic contractions of both arms; more static asymmetric dystonic posturing of lower extremities (left flexor bias, right extensor bias); hands often held open, but fisted during opisthotonic episodes; central tone is poor (head lag when pulled to sit, vertical slip-through); tendon reflexes are not increased; left foot in dystonic plantar grasp; no Babinski reflex elicited; cautionary weight gain; severe dysphagia secondary to dystonia; genetic testing by Sanger sequencing; homozygous mutations in SLC6A3 gene; allele 1: 1408T>A and c.1409A>G; allele 2: 1408T>A and c.1409A>G; assistive devices: wheelchair, G-tube feeding.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: SLC6A3
Disease疾病类型:
Mutations突变: c.1408T>A c.1409A>G
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