Name：NTCC? NA12960 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA12960
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: 10 YR
Gender性別: Male
Description描述: CYSTIC FIBROSIS; CF | CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR | HUMAN GENE MUTATION PANEL - CYSTIC FIBROSIS (VERSION 2)
Remarks: Meconium ileus; elevated sweat chloride; the donor subject is a compound heterozygote: one allele of the CFTR gene carries a C-to-T substitution at nucleotide 1132 (1132C>T) in exon 7 of the CFTR gene which changes an arginine codon to a tryptophan at position 334 of the putative first transmembrane domain of the protein [ARG334TRP (R334W)]; the mutation in the other allele is unknown; 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
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: ARG334TRP
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(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