NTCC® NA00504 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA00504

Name：NTCC® NA00504 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA00504
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄: 19 YR
Gender性别: Female
Description描述: CYSTIC FIBROSIS; CF | CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
Remarks: Cell free supernatant produces ciliary dyskinesis factor in rabbit bioassay; 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 GM01530.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: CFTR
Disease疾病类型:
Mutations突变: GLY542TER HIS609ARG
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
Origin:
Transformants:
Alias别名:
Images图片:
References参考文献:

Supplier供应商:
BioVector质粒载体菌株细胞蛋白抗体基因保藏中心
NTCC典型培养物保藏中心
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net