NTCC® NA01662 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA01662

Name：NTCC® NA01662 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA01662
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: 9 YR
Gender性别: Male
Description描述: LESCH-NYHAN SYNDROME; LNS | HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1; HPRT
Remarks: Clinically affected; no detectable HPRT and normal APRT activity; has an exon 2,3 duplication in the HPRT1 gene and a correspondingly elongated HPRT mRNA; atypical disease: lacks compulsive self-mutilation and mental retardation; see GM06804 for Lymph of same subject; mother (GM01659) and sisters (GM01660/GM01661) are unaffected carriers.
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: HPRT1
Disease疾病类型:
Mutations突变: EX2-3DUP, IVS1DEL
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