NTCC® NA07441 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA07441

Name：NTCC® NA07441 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA07441
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: 20 YR
Gender性别: Female
Description描述: CYSTIC FIBROSIS; CF | CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR | 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR | HUMAN GENE MUTATION PANEL - CYSTIC FIBROSIS (VERSION 2)
Remarks: Elevated sweat chloride; pulmonary involvement; 2 similarly affected sibs; donor subject is a compound heterozygote: one allele of the CFTR gene carries a G-to-A substitution at 3120+1 in intron 16 (3120+1G>A ); a second allele of the CFTR gene carries a G-to-T substitution at 621+1 in intron 4 (621+1G>T); both mutations result in mRNA splicing defects; 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; donor subject is also heterozygous for a C>T mutation at nucleotide 677 in exon 4 of the methylenetetrahydrofolate reductase (MTHFR) gene [677C>T] that results in a substitution of a valine for an alanine at codon 222 [Ala222Val (A222V)]
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: CFTR MTHFR
Disease疾病类型:
Mutations突变: 621+1G>T 677C>T IVS16,G>A,+1 (3120+1G>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