NTCC® NA24646 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA24646

Name：NTCC® NA24646 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA24646
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: 31 YR
Gender性别: Male
Description描述: USHER SYNDROME, TYPE IC; USH1C
Remarks: Clinically affected; symptom onset at birth; diagnosed at age 13 years; profound bilateral sensorineural hearing loss; balance issues; retinitis pigmentosa diagnosed in the second decade of life-at age 25 visual acuity was 20/20 with pigmentary retinopathy present in the periphery; electroretinography revealed subnormal rod b-wave, reduced a and b waves of the mixed cone-rod signal, and reduced cone responses, kinetic fields indicated a large central island separated from a far temporal island by and absolute mid-peripheral scotoma, subject was normal for a wide central region but had a decline in sensitivity at 26-30 degrees eccentricity; subject is homozygous for USH1C gene mutation: 238_239insC (R80fs); assistive devices include cochlear implant; subject takes vitamin A, lutein and fish oil supplements; affected sister is GM25303 and unaffected carrier parents are GM25302 (mother) and GM25304 (father).
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: USH1C
Disease疾病类型:
Mutations突变: 238_239insC (R80fs)
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