Name：NTCC? NA21940 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA21940
Size/Quantity數量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡:
Gender性別: 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其他編號:
Cell Type細胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: FBN1
Disease疾病類型:
Mutations突變: DEL EX44-46
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻:

Supplier供應商:
BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net