Name：NTCC? NA13436 LCL DNA
Category分類：DNA
Cat#貨號(hào):NTCC?-Coriell NA13436
Size/Quantity數(shù)量: 1 Vial
Biosafety Level生物安全級(jí)別:1
Shipping Info運(yùn)輸方式: RT
Storage儲(chǔ)存方式: 4C
Species物種來源:
Age年齡: 7 YR
Gender性別: 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其他編號(hào):
Cell Type細(xì)胞類型: LCL
Source組織來源: LCL
Gene: PLP1
Disease疾病類型:
Mutations突變: THR42ILE
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻(xiàn):

Supplier供應(yīng)商:
BioVector質(zhì)粒載體菌株細(xì)胞蛋白抗體基因保藏中心
NTCC典型培養(yǎng)物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net