NTCC® NA13437 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA13437

Name：NTCC® NA13437 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA13437
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: 25 YR
Gender性别: Male
Description描述: PELIZAEUS-MERZBACHER DISEASE; PMD | PROTEOLIPID PROTEIN 1; PLP1
Remarks: Clinically affected; childhood onset of pendular nystagmus, progressive spasticity and ataxia; dysarthria; intellectual dysfunction; gradual loss of ambulation; IQ at age 23 years was 70; MRI at age 22 and 25 years showed markedly retarded myelination and large ventricles; donor subject is hemizygous for a C>A transversion at nucleotide 344 in exon 3 of the PLP1 gene [344C>A] resulting in a substitution of lysine for threonine at codon 115 [Thr115Lys (T115K)].
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: PLP1
Disease疾病类型:
Mutations突变: THR115LYS
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