NTCC® NA05258 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA05258

Name：NTCC® NA05258 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA05258
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: 34 YR
Gender性别: Female
Description描述: WILSON DISEASE | ATPASE, CU(2+)-TRANSPORTING, BETA POLYPEPTIDE; ATP7B
Remarks: Diagnosed at age 24 as asymptomatic with "emotional instability"; low serum ceruloplasmin & high hepatic copper level; maintained on d-penicillamine; father had Wilson's disease; parents are first cousins; see GM05257 Fibroblast; donor subject is a compound heterozygote: one allele has an A>C change at nucleotide 3191 in the ATP7B gene (c.3191A>C) resulting in the substitution of alanine for glutamic acid at codon 1064 [Glu1064Ala (E1064A)] and the second allele has a C>A change at nucleotide 3207 (c.3207C>A) resulting in the substitution of glutamine for histidine at codon 1069 [His1069Gln (H1069Q)]
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: ATP7B
Disease疾病类型:
Mutations突变: GLU1064ALA HIS1069GLN
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