NTCC® NA21940 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA21940

Name：NTCC® NA21940 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA21940
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:
Gender性别: Female
Description描述: MARFAN SYNDROME; MFS | FIBRILLIN 1; FBN1
Remarks: Clinically affected; as a neonate she had striking arachnodactyly and pectus excavatum; mild contractures of elbows and knees; long face with deep-set eyes; bilateral iridodonesis; high-grade myopia; bilateral lens dislocation at age three years; severe progressive thoracolumbar scoliosis (>80 degrees) requiring spinal fusion; episodes of supraventricular tachycardia and cardiac arrhythmia; aortic root 4.5cm in diameter at age six years; mitral regurgitaion and mitral and tricuspid valve prolapse; hypermobile joints; valve-repacement surgery and pectus excavatum repair; underdeveloped musculature and lack of subcutaneous fat; donor subject has a genomic deletion of exons 44, 45 and 46 of the FBN1 gene
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: DEL EX44-46
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