NTCC® NA25394 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA25394

Name：NTCC® NA25394 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA25394
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: 26 YR
Gender性别: Male
Description描述: CHOROIDEREMIA; CHM | CHM GENE; CHM
Remarks: Clinically affected; symptom onset at 4 years of age; diagnosed at age 8 years; at 20 years of age, subject reported declining vision in right eye; examination revealed the following results: visual acuity (OD:4/200 with eccentric fixation, OS:20/30, read J5), pressures with tonopen (OD:18 mm Hg, OS:18 mm Hg), slit lamp examination (OU:within normal limits), fundus findings (OU: Heavy loss of retinal pigment epithelium and choriocapillaris in both eyes); legally blind with visual fields of less than 5 degrees with the 3mm (III-4-e) test object in both eyes; genetic testing revealed hemizygous mutation in exon 7 of the CHM gene: c.877 C>T, p.Arg293Stop (R293X); subject also hemizygous for a suspected rare polymorphism in exon 4 of the CHM gene (295A>T); medications/supplements: antioxidant vitamins; assistive device: white cane.
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: 295 A>T c.887 C>T
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