NTCC® NA12217 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA12217

Name：NTCC® NA12217 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA12217
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: 3 YR
Gender性别: Male
Description描述: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
Remarks: Simple virilizing 21-hydroxylase deficiency; elevated 17-hydroxyprogesterone level; pubic hair since age 12 months; accelerated growth; bone age is twice chronological age; acne; donor subject is a compound heterozygote: one allele has a deletion of 30 Kb in exon 3-4 of the CYP21A2 gene leaving behind the C4A gene and a single CYP21P-like gene - the deletion prevents the synthesis of the protein and destroys all enzymatic activity; the second allele has codon 172 of the mutant gene changed from ATC, encoding isoleucine, to AAC, encoding asparagine [Ile172Asn (I172N)]
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: CYP21A2
Disease疾病类型:
Mutations突变: 30-KB DEL ILE172ASN
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