NTCC® NA21939 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA21939

Name：NTCC® NA21939 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA21939
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: 40 YR
Gender性别: Female
Description描述: MARFAN SYNDROME; MFS | FIBRILLIN 1; FBN1
Remarks: Clinically affected; long fingers at birth; bilateral lens dislocation; adult height of 186cm with long arms and legs; narrow highly arched palate; dental crowding; chest asymmetry and pectus deformity (upper sternum protrudes); hyperextensible large and small joints; arthritis; arachnodactyly; frequent thumb dislocations; pes planus; thin fragile skin; ectopia lentis; high-grade myopia; glaucoma requiring surgery at 18 years of age; cardiac arrhythmia; aortic root diameter was 4.5cm at age 46 years; no family history; donor subject has a genomic deletion of exons 42 and 43 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 EX42-43
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