GM25965脉络膜血症；化学物质管理 |中药基因； CHM B-淋巴细胞 LCL Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM25965 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; onset of symptoms at 35 years of age; diagnosed at 43 years of age; ophthalmology exam at 43 years of age: gradually progressive fuzzy vision in both eyes, seeing flashes when blinking under artificial light; Visual Acuity - dist (SC): OD 20/25-2+3, OS 20/40 ph NI; Spectacles - Manifest Refraction: OD: -0.75+0.50X30 20/20, OS: -0.25sph NI, both 20/25-2; Intraocular Pressure -applanation: OD: 16, OS: 14 at 355pm; visual field full to confrontation; motility: ortho, full versions, OU, full ductions; pupils OD: 4-3.5, OS: 4-3.5, no APD; normal slit lamp examination; posterior segment exam at 355pm- neo 2.5%, mydriacyl 1%: vitreous OD/OS clear; optic nerve: OD/OS flat, sharp, mild pallor; CD ratio: vertical:0.2; macula: OD/OS flat, RPE stippling no heme or exudates; vessels: OD/OS normal vessels; periphery: OD/OS pigment stippling and focal RPE atrophy and exposure of choroidal vessels, no holes or tears; OCT: OD central foveal thickness 256 um nl foveal contour, no SRF/IRF; OS central foveal thickness 232 um nl foveal contour, no SRF/IRF; DNA sequencing of all coding exons and exon/intron boundaries revealed a hemizygous frame-shift mutation in the CHM gene: c.941dupG; affected maternal grandfather (not in repository).
Category分类：B-Lymphocyte
ID编号:NTCC®-GM25965
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:47 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:c.941dupG
Ethnicity:English
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
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