NTCC® NA11859 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA11859

Name：NTCC® NA11859 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA11859
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: 57 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: Clinically affected; mild pulmonary disease with pancreatic exocrine sufficiency and elevated sweat chloride; donor subject is homozygous for G-to-A substitution at nucleotide 2657+5 in intron 14b which results in an mRNA splicing defect: c.2657+5G>A (g. 117242922); alternate nomenclature is c.2789+5G>A) 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; SMN1: no deletion detected for exon 7 and exon 8; SMN2: homozygous deletion of exon 7 and exon 8.
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: c.2657+5 G>A
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