NTCC® NA10641 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA10641

Name：NTCC® NA10641 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA10641
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: 4 YR
Gender性别: Female
Description描述: SJOGREN-LARSSON SYNDROME
Remarks: Congenital ichthyosis; mental retardation; spastic quadriplegia; fibroblasts have 5% of control fatty alcohol:NAD+ oxidoreductase activity using octadecanol as the substrate; donor subject is homozygous for a 3 bp deletion at nucleotide 941 with a 21 bp insertion at the intron 6/exon 7 junction of the ALDH3A2 gene (941_943delCCC + ins21nt) leading to amino acid substitutions [Ala314Gly (A314G)] and [Pro315Ala (P315A)] accompanied by the addition of six amino acids, Ala-Lys-Ser-Thr-Val-Gly between the pair
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: 3-BP DEL/21-BP INS, ALA314GLY, PRO315ALA
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