NTCC® NA10642 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA10642

Name：NTCC® NA10642 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA10642
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: 5 YR
Gender性别: Male
Description描述: SJOGREN-LARSSON SYNDROME
Remarks: Mildly affected with congenital ichthyosis, mental retardation, & spastic diplegia of lower extremities; fibroblasts have 8% of control fatty alcohol:NAD+ oxidoreductase activity using octadecanol as substrate; donor subject is a compound heterozygote: allele 1 has a 2 bp deletion at nucleotide 1297 of the ALDH3A2 gene (1297_1298delGA) with consequent premature termination at amino acid 434 and the other allele carries an as yet unidentified mutation.
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: ALDH3A2
Disease疾病类型:
Mutations突变: 2-BP DEL, 1297GA
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