NTCC® NA21931 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA21931

Name：NTCC® NA21931 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA21931
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: 48 YR
Gender性别: Female
Description描述: MARFAN SYNDROME; MFS | FIBRILLIN 1; FBN1
Remarks: Clinically affected; long extremities; tall stature; marked pectus excavatum; no ocular manifestations; aortic aneurysm and mitral valve prolapse were noted at age 45 years; she underwent replacement of the aortic root and ascending aorta with a composite graft; two affected sons; donor subject has a 17 bp deletion at nucleotide 3464 in exon 28 of the FBN1 gene (3464del17) resulting in a frameshift and a stop codon at 1186
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: 3464del17
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