Name：NTCC? NA13437 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA13437
Size/Quantity數量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 25 YR
Gender性別: 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其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: PLP1
Disease疾病類型:
Mutations突變: THR115LYS
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻:

Supplier供應商:
BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net