NTCC® NA16080 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA16080

Name：NTCC® NA16080 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA16080
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: 17 YR
Gender性别: Male
Description描述: CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1 | PALMITOYL-PROTEIN THIOESTERASE 1; PPT1
Remarks: IBR-BD Registry #1210/BD037; age of onset of 7 years; progressive visual difficulties; granular osmiophilic deposits (GROD) mixed with curvilinear and fingerprint profiles; palmitoyl-protein thioesterase activity <0.2 pmoles/min/mg of protein (normal range, 1-3 pmoles/min/mg of protein); compound heterozygote; one allele carries an arg151-to-ter nonsense mutation resulting from a C-to-T substitution at nucleotide 451 [ARG151TER (R151X)] in exon 5 of the palmitoyl-protein thioesterase 1 (PPT1) gene; a second allele carries a thr 75-to-pro missense mutation in exon 2 resulting from an A to-C transversion at nucleotide 223 [THR75PRO(T75P)].
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: ARG151TER THR75PRO
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