NTCC® NA06966 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA06966

Name：NTCC® NA06966 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA06966
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: 6 YR
Gender性别: Male
Description描述: CYSTIC FIBROSIS; CF | CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
Remarks: Cystic fibrosis & clinically documented nephropathic cystinosis; growth difficulty; recurrent pneumonias; hyponatremia & other electrolyte abnormalities; renal disease; cystine crystals in cornea; 46,XY; donor subject is a compound heterozygote: one allele carries the deltaF508 deletion mutation (PHE508DEL) and a second allele carries a G-to-T substitution at nucleotide 406 (406G>T) which converts the glu-92 codon (GAA) to a stop codon (TAA), resulting in a nonsense mutation in exon 4 in the CFTR gene [GLU92TER (E92X)]
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: CFTR
Disease疾病类型:
Mutations突变: GLU92TER PHE508DEL
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