NTCC® NA11781 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA11781

Name：NTCC® NA11781 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA11781
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: 11 YR
Gender性别: Female
Description描述: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
Remarks: Only affected amongst triplets; a paternal cousin is also affected; at birth, severely virilized & elevated 17-hydroxy-progesterone; 46,XX in PBL; pt doing well on hydrocortisone; donor subject is homozygous for an A>G or C>G change at position -2 in the acceptor splice site of intron 2 resulting in an aberrant splice site being activated 7 bases upstream of the mutation in the CYP21A2 gene [IVS2-13A/C>G]
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: IVS2AS,A/C>G,-13
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