GM24646IC 型 USHER 综合症； USH1C 皮肤、皮肤成纤维细胞Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM24646 USHER SYNDROME, TYPE IC; USH1C Skin, Skin Cell Line
IC 型 USHER 综合症； USH1C细胞株
Description描述：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).
Category分类：Fibroblast
ID编号:NTCC®-GM24646
Size/Quantity数量: 1 Flask/2 Vials
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT/Dry Ice
Storage储存方式: RT/Liquid Nitrogen
Race: White
Age年龄:31 YR
Gender性别:Male
Cell Type细胞类型: USHER SYNDROME, TYPE IC; USH1C
Affected State:Yes
Product:Fibroblast
Gene:USH1C
Mutations突变:238_239insC (R80fs)
Ethnicity:Ashkenazi Jewish; Polish; Russian
Family:3193
Relationship:proband
Karyotype:
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent Complete Medium
Subculturing传代方法:
Cryopreservation冻存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培养条件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鉴定数据:
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