NTCC® NA13263 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA13263

Name：NTCC® NA13263 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA13263
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: 1 MO
Gender性别: Male
Description描述: PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY | 17-@BETA-HYDROXYSTEROID DEHYDROGENASE IV; HSD17B4
Remarks: Hypotonia; seizures; macrocephalic; expired at age 5 months; deficient peroxisomal B-oxidation in fibroblasts; slightly abnormal phytanic acid oxidation in fibroblasts; elevated levels of trihydroxycholestanoic acid (THCA) in plasma; donor subject is homozygous for a deletion of 2 bp at position 422_423 of the HSD17B4 (D-BP) gene cDNA causing a frameshift leading to a premature stop codon at position 490, which results in a shortened product of 163 amino acids; the inactive protein lacks the catalytic aa tyrosine and lysine in the NYSAAK-motif characteristics of the short-chain-alcohol dehydrogenase gene family
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: HSD17B4
Disease疾病类型:
Mutations突变: 422del2
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