Name：NTCC? NA11860 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA11860
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: 21 YR
Gender性別: Female
Description描述: CYSTIC FIBROSIS; CF | CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR | CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9 | HUMAN GENE MUTATION PANEL - CYSTIC FIBROSIS (VERSION 2)
Remarks: Clinically affected; homozygous for 3849 +10kb,C>T mutation; analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 7T/7T; Pakistani; mild pulmonary disease with pancreatic exocrine sufficiency and normal sweat chloride; donor subject is heterozygous for a C>T change at nucleotide 416 (416C>T) in exon 3 of the CYP2C9 gene (CYP2C9*2) which results in a substitution of cysteine for arginine at codon 144 [Arg144Cys (R144C)]
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: IVS19DS, +10 KB, C>T (3849+10kbC>T)
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