NTCC® NA05045 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA05045

Name：NTCC® NA05045 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA05045
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: 59 YR
Gender性别: Male
Description描述: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 | INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE-COMPLEX ASSOCIATED PROTEIN; IKBKAP
Remarks: Clinically unaffected; normal histamine test; donor subject has one allele which has the 2507+6T>C mutation in the IKBKAP gene; this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA; the second allele tested negative for the IVS20+6T>C and R696P mutations; affected children are GM05041, GM05042.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: IKBKAP
Disease疾病类型:
Mutations突变: c.2204+6T>C (IVS20+6T>C)
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