NTCC® NA20379 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA20379

Name：NTCC® NA20379 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA20379
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: 18 YR
Gender性别: Male
Description描述: CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1 | PALMITOYL-PROTEIN THIOESTERASE 1; PPT1
Remarks: Clinically affected; visual problems at age 1 year; seizures at age 3 years; movement dysfunction at age 16 years; intelligence declined at age 18 years; EM showed granular osmiophillic deposits; deficient palmitoyl-protein thioesterase 1 activity; donor subject is a compound heterozygote: one allele has an A>T transversion at nucleotide 364 in exon 4 of the PPT1 gene [364A>T] resulting in a substitution of tryptophan for arginine at codon 122 [Arg122Trp (R122W)] and a second allele has a G>A transition at nucleotide 125 in exon 2 of the PPT1 gene [125G>A] resulting in a substitution of glutamic acid for glycine at codon 42 [Gly42Glu (G42E)].
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: PPT1
Disease疾病类型:
Mutations突变: ARG122TRP GLY42GLU
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