NTCC® NA17431 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA17431

Name：NTCC® NA17431 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA17431
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:
Gender性别: Male
Description描述: GALACTOSEMIA | GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT
Remarks: Clinically affected; GALT = 0.3 micromol/h/g Hb (normal = 17-37); Gal-1-P = 17 mg/dl (normal = 0-1.0); donor subject is a compound heterozygote: one allele carries an A-to-G transition at nucleotide 591 (591A>G) in the GALT gene, resulting in a gln188-to-arg substitution [GLN188ARG (Q188R)] and the second allele carries a T to C transition at nucleotide 612 (612T>C), resulting in an leu195-to-pro substitution [LEU195PRO (L195P)].
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: GALT
Disease疾病类型:
Mutations突变: GLN188ARG LEU195PRO
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