Name：NTCC? NA11781 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA11781
Size/Quantity數量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 11 YR
Gender性別: 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其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: CYP21A2
Disease疾病類型:
Mutations突變: IVS2AS,A/C>G,-13
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻:

Supplier供應商:
BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net