GM26036 CHOROIDEREMIA; CHM | CHM GENE; CHM Skin, Arm Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM26036 CHOROIDEREMIA; CHM | CHM GENE; CHM Skin, Arm 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; onset of symptoms at 13 years; diagnosed at 35 years; diffuse chorioretinal atrophy with macular involvement; subject had noticed symptoms of vision loss around the age of 13-15 years when playing baseball, never could see well in dim light/at night as a child; noticed that he couldn锟絫 see items on shelves when shopping around age ~45 and began struggling with walking places at age 49; fundus photos and FAF images showed small scattered pigmentary islands, OD: poor AF, OS: small AF island within; microperimeter: average threshold was OD: 4 degrees, OS: 2 degrees; 100% fixation stability in both eyes - good fixation and double ring target; vision 锟?OD: 20/30, OS: 20/40; sequencing of the CHM gene revealed a hemizygous c.757C>T (R253X) mutation; medications/supplements: Combigan, Lumigan, omega-3, lutein, B6 and B12 vitamins.
Category分类：Fibroblast
ID编号:NTCC®-GM26036
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:51 YR
Gender性别:Male
Cell Type细胞类型: CHOROIDEREMIA; CHM | CHM GENE; CHM
Affected State:Yes
Product:Fibroblast
Gene:CHM
Mutations突变:c.757C>T
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM 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