NTCC® NA21987 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA21987

Name：NTCC® NA21987 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA21987
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: 33 YR
Gender性别: Female
Description描述: MARFAN SYNDROME; MFS | FIBRILLIN 1; FBN1
Remarks: Clinically affected; pectus carinatum; scoliosis; high narrow palate; contractures, including hammertoes; hypermobile small joints; hypermobile large joints; positive wrist sign; positive thumb sign; arachnodactyly; ascending aortic aneurysm; aortic dissection; aortic root replacement at age 33 years; mitral regurgitation; striae; donor subject has a C>T change at nucleotide 6169 in exon 50 of the FBN1 gene (6169C>T) resulting in a premature stop codon [Arg2057Ter (R2057X)]
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: FBN1
Disease疾病类型:
Mutations突变: ARG2057TER
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