Name：NTCC? NA01530 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA01530
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: 5 YR
Gender性別: Female
Description描述: CYSTIC FIBROSIS; CF | CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
Remarks: HLA type A2,A11,Bw17,Bw35; metachromasia positive; donor subject is a compound heterozygote: one allele carries a G-to-T substitution at nucleotide 1756 (1756G>T) which converts the gly-542 codon (GGA) to a stop codon (TGA), resulting in a nonsense mutation in exon 11 [Gly542TER (G542X)] and a second allele carries an A-to-G substitution at nucleotide 1958 (1958A>G) which converts the his-609 codon to an arg, resulting in a missense mutation in exon 13 in the CFTR gene [His609Arg (H609R)]; same as GM00504.
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: GLY542TER HIS609ARG
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