NTCC® NA13436 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA13436

Name：NTCC® NA13436 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA13436
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: 7 YR
Gender性别: Male
Description描述: PELIZAEUS-MERZBACHER DISEASE; PMD | PROTEOLIPID PROTEIN 1; PLP1
Remarks: Clinically affected; nystagmus from birth; respiratory difficulty noted at one month of age; BSAER showed extremely slow conduction velocity with only waves 1 and 2 present bilaterally; MRI scan at age 13 months was extremely abnormal with poor myelination of white matter; EMG showed no involvement of peripheral nervous system; at age 4 years, subject unable to sit, speak, or feed himself; donor subject is hemizygous for a C>T transition at nucleotide 125 in exon 2 of the PLP1 gene [125C>T] resulting in a substitution of isoleucine for threonine at codon 42 [Thr42Ile (T42I)].
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: THR42ILE
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