NTCC® NA11496 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA11496

Name：NTCC® NA11496 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA11496
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: 16 YR
Gender性别: Female
Description描述: CYSTIC FIBROSIS; CF | CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR | COPY NUMBER VARIATION (CNV) REFERENCE PANEL 02 | HUMAN GENE MUTATION PANEL - CYSTIC FIBROSIS (VERSION 2)
Remarks: Short stature; growth hormone deficiency; uniparental disomy for chromosome 7; pancreatic insufficiency since childhood; at age 19.5, has moderate pulmonary disease with localized bronchiectasis and allergic bronchopulmonary aspergillosis; homozygous for exon 11 Gly542TER (G542X) nonsense mutation; analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 9T/9T
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: CFTR
Disease疾病类型:
Mutations突变: GLY542TER
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