NTCC® NA13817 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA13817

Name：NTCC® NA13817 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA13817
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: 4 YR
Gender性别: Male
Description描述: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
Remarks: XP22BE; Korean; skin lesions including squamous cell carcinoma and melanomas; mild developmental & significant speech delays; growth below the fifth percentile; hyperactivity with delayed motor development and absent speech; persistent low levels of glycine in the blood; increased levels of valine, isoleucine, leucine, methionine, and tyrosine in the blood and urine; the donor subject is homozygous for a T>G transversion in the splice donor site of exon 9 in the XPC gene (IVS9+2T>G) which results in three different mRNA isoforms: isoform I has a loss of exon 9, isoform II has an insertion of exons 9b and 9a, and isoform III has a deletion of exon 9 and an insertion of exon 9a.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: XPC
Disease疾病类型:
Mutations突变: IVS9DS, T>G, +2
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