Name：NTCC? NA00897 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA00897
Size/Quantity數(shù)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: 13 YR
Gender性別: Male
Description描述: CYSTIC FIBROSIS; CF | CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
Remarks: Mild; no pancreatic insufficiency; first diagnosed at age 4 months; a sib died of cystic fibrosis at age 10; see GM00768 Fibroblast; donor subject is a compound heterozygote: one allele carries the deltaF508 deletion mutation (Phe508DEL) and a second allele carries a C-to-G substitution at nucleotide 1172 (1172C>G) which converts the arg-347 codon (CGC) to a pro (CCC), resulting in a missense mutation in exon 7 in the CFTR gene [Arg347Pro (R347P)]
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: CFTR
Disease疾病類型:
Mutations突變: ARG347PRO PHE508DEL
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(yīng)商:
BioVector質(zhì)粒載體菌株細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