Name：NTCC? NA18799 LCL DNA
Category分類：DNA
Cat#貨號(hào):NTCC?-Coriell NA18799
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物種來源:
Age年齡: 31 YR
Gender性別: Female
Description描述: CYSTIC FIBROSIS; CF | CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR | HUMAN GENE MUTATION PANEL - CYSTIC FIBROSIS (VERSION 2)
Remarks: Czechoslovakian; clinically affected; donor subject is a compound heterozygote: one allele carries a 1 bp deletion at nucleotide 2184 in exon 13 of the CFTR gene (2184delA), resulting in a frameshift and premature termination; the second allele carries a 3 bp deletion in exon 10 resulting in the deletion of phenylalanine at codon 508 [Phe508Del (delta F508; F508del)]; analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 7T/9T
Alternate IDs其他編號(hào):
Cell Type細(xì)胞類型: LCL
Source組織來源: LCL
Gene: CFTR
Disease疾病類型:
Mutations突變: 2184delA 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