NTCC® NA11860 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA11860

Name：NTCC® NA11860 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA11860
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: 21 YR
Gender性别: Female
Description描述: CYSTIC FIBROSIS; CF | CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR | CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9 | HUMAN GENE MUTATION PANEL - CYSTIC FIBROSIS (VERSION 2)
Remarks: Clinically affected; homozygous for 3849 +10kb,C>T mutation; analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 7T/7T; Pakistani; mild pulmonary disease with pancreatic exocrine sufficiency and normal sweat chloride; donor subject is heterozygous for a C>T change at nucleotide 416 (416C>T) in exon 3 of the CYP2C9 gene (CYP2C9*2) which results in a substitution of cysteine for arginine at codon 144 [Arg144Cys (R144C)]
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: IVS19DS, +10 KB, C>T (3849+10kbC>T)
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