NTCC® NA25385 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA25385

Name：NTCC® NA25385 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA25385
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: 61 YR
Gender性别: Male
Description描述: CHOROIDEREMIA; CHM | CHM GENE; CHM
Remarks: Clinically affected; onset of symptoms at 14 years of age; diagnosed at 61 years of age; DNA sequencing through exons 5 and 6 of the CHM gene using genomic DNA from the subject's white blood cells revealed a hemizygous, probable highly-penetrant disease-causing variant: Arg270Stop CGA>TGA and a hemizygous non-disease-causing variant Ala117Ala GCA>GCG; family history: subject has one brother affected with choroideremia (GM25399-lymph,GM25400-fibro) and one brother unaffected by the disease (not in repository); fibroblast is GM25386.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: CHM
Disease疾病类型:
Mutations突变: ARG270TER
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