NTCC® NA09276 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA09276

Name：NTCC® NA09276 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA09276
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: 73 YR
Gender性别: Male
Description描述: CARBOXYPEPTIDASE N DEFICIENCY | CARBOXYPEPTIDASE N, POLYPEPTIDE 1, 50-KD; CPN1
Remarks: Angioedema, about 40 attacks per year; urticaria on a few occasions during childhood; long-standing ragweed hay fever and asthma; proband and a sister have approximately 20% of normal carboxypeptidase N activity in serum; donor subject is a compound heterozygote: one allele has a frameshift mutation due to a single G insertion at nucleotide 385 (codon R58) in exon 1 of the CPN1 gene which predicted an abnormal and prematurely truncated protein of 164 amino acids [385fsInsG] and the second allele has a G>A transition at nucleotide 746 in exon 3 (746G>A) that results in a missense gly178-to-asp substitution [Gly178Asp (G178D)]
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: CPN1
Disease疾病类型:
Mutations突变: 1-BP INS, 385G GLY178ASP
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