NTCC® NA07552 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA07552

Name：NTCC® NA07552 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA07552
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 | HUMAN GENE MUTATION PANEL - CYSTIC FIBROSIS (VERSION 2)
Remarks: Positive family history in both parent's families; positive sweat test; lung biopsy showed bronchiectasis, chronic interstitial inflammation, fibrosis, and mucous gland hyperplasia and focal dilation; a sib with CF died at age 8; donor subject is a compound heterozygote: one allele carries the deltaF508 deletion mutation (Phe508DEL) and a second allele carries a C-to-T substitution at nucleotide 1789 (1789C>T) which converts the arg-553 codon (CGA) to a stop codon (TGA), resulting in a nonsense mutation in exon 11 in the CFTR gene [Arg553TER (R553X)]; analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 7T/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: ARG553TER 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