Name：NTCC? NA07469 LCL DNA
Category分類：DNA
Cat#貨號(hào):NTCC?-Coriell NA07469
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: 15 YR
Gender性別: Female
Description描述: CYSTIC FIBROSIS; CF | CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
Remarks: Diagnosed at age 6 on basis of abnormal stools, persistent cough and rales, weight loss, and positive sweat test; on Pancrease, bronchodilators, and intermit antibiotics; 50-75 percentile for height and weight; similarly affected brother; donor subject is a compound heterozygote: one allele carries the deltaF508 deletion mutation (PHE508DEL) and a second allele carries a C-to-T substitution at nucleotide 1789 (1789C>T) which converts the arg-553 codon (CGA) to a stop codon (TGA), resulting in a nonsense mutation in exon 11 in the CFTR gene [ARG553TER (R553X)]
Alternate IDs其他編號(hào):
Cell Type細(xì)胞類型: LCL
Source組織來(lái)源: LCL
Gene: CFTR
Disease疾病類型:
Mutations突變: ARG553TER PHE508DEL
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