GM25394 CHOROIDEREMIA; CHM | CHM GENE; CHM B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM25394 CHOROIDEREMIA; CHM | CHM GENE; CHM B-Lymphocyte Cell Line
脉络膜血症；化学物质管理 |中药基因； CHM细胞株
Description描述：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.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM25394
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:26 YR
Gender性别:Male
Cell Type细胞类型: CHOROIDEREMIA; CHM | CHM GENE; CHM
Affected State:Yes
Product:LCL
Gene:CHM
Mutations突变:295 A>T c.887 C>T
Ethnicity:Irish
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:Blood
Complete Growth Medium完全培养基: BioVector® Roswell Park Memorial Institute Medium 1640 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