NTCC® NA11215 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA11215

Name：NTCC® NA11215 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA11215
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: 23 YR
Gender性别: Male
Description描述: GLYCOGEN STORAGE DISEASE I
Remarks: Liver biopsy of affected sibling showed deficiency of glucose-6-phosphatase; hyperuricemia under control; cornstarch therapy to counteract hypoglycemia; donor subject is homozygous for a C>T transition at nucleotide 1118 in exon 5 of the G6PC gene [1118C>T] resulting in a substitution of a termination signal for glutamine at codon 347 [Gln347Ter (Q347X)].
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: G6PC
Disease疾病类型:
Mutations突变: GLN347TER
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