Name：NTCC? NA21969 Fibroblast DNA
Category分類：DNA
Cat#貨號(hào):NTCC?-Coriell NA21969
Size/Quantity數(shù)量: 1 Vial
Biosafety Level生物安全級(jí)別:1
Shipping Info運(yùn)輸方式: RT
Storage儲(chǔ)存方式: 4C
Species物種來(lái)源:
Age年齡: 45 YR
Gender性別: 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 thumb sign; ascending aortic aneurysm; aortic dissection; aortic root replacement at age 42 years; mitral valve prolapse; mitral regurgitation; striae; donor subject has a 3 bp deletion and 20 bp insertion at nucleotide 1642 in exon 13 of the FBN1 gene (1642del3ins20) resulting in a premature stop codon [Ile578Ter (I578X)]
Alternate IDs其他編號(hào):
Cell Type細(xì)胞類型: Fibroblast
Source組織來(lái)源: Fibroblast
Gene: FBN1
Disease疾病類型:
Mutations突變: 1642del3ins20
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻(xiàn):

Supplier供應(yīng)商:
BioVector質(zhì)粒載體菌株細(xì)胞蛋白抗體基因保藏中心
NTCC典型培養(yǎng)物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net