Name：NTCC? NA00999 Fibroblast DNA
Category分類：DNA
Cat#貨號(hào):NTCC?-Coriell NA00999
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: 13 YR
Gender性別: Female
Description描述: CYSTIC FIBROSIS; CF | CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
Remarks: Diagnosed at age 3; 1 affected and 6 normal sibs; sweat chloride: 144 meq/L; symptoms are GI and pulmonary; donor subject is a compound heterozygote: one allele of the CFTR gene carries a G-to-T substitution at 621+1 in intron 4 which results in an mRNA splicing defect (621+1G>T) and a second allele carries an insertion of TC after nucleotide 1154 (1154insTC) which results in a frameshift
Alternate IDs其他編號(hào):
Cell Type細(xì)胞類型: Fibroblast
Source組織來(lái)源: Fibroblast
Gene: CFTR
Disease疾病類型:
Mutations突變: 1154insTC 621+1G>T
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