Name：NTCC? NA18800 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA18800
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: 25 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 G-to-A substitution at nucleotide 1898+1 (1898+1G>A) in intron 12 of the CFTR gene which results an mRNA splicing defect; 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:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: CFTR
Disease疾病類型:
Mutations突變: 1898+1 G>A 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