NTCC® NA17433 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA17433

Name：NTCC® NA17433 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA17433
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; affected brother is GM17436; 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 249 (249T>C), resulting in an leu74-to-pro substitution [LEU74PRO (L74P)].
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 LEU74PRO
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