GM09070 USHER SYNDROME, TYPE IC; USH1C | USH1C GENE; USH1C B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM09070 USHER SYNDROME, TYPE IC; USH1C | USH1C GENE; USH1C B-Lymphocyte Cell Line
IC 型 USHER 综合症； USH1C | USH1C基因； USH1C细胞株
Description描述：Clinically affected; Acadian; 2 affected sibs; parents are 3rd cousins; visual field defect and retinal abnormalities; profound bilateral sensorineural hearing loss; absent contralateral stapedial reflex thresholds bilaterally; speech awareness threshold 100 dB for rightt ear and 110 db+ for left ear; unintelligible speech; excellent manual communication skills; son of GM09069A and 09073; donor subject is homozygous for a G>A transition at nucleotide 216 in exon 3 of the USH1C gene [216G>A] resulting in a splice-site mutation that causes a 35 bp frame-shift deletion (new splice site is created that eliminates the use of the normal splice site resulting in loss of normal mRNA)_x000D_ _x000D_
Category分类：B-Lymphocyte
ID编号:NTCC®-GM09070
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:21 YR
Gender性别:Male
Cell Type细胞类型: USHER SYNDROME, TYPE IC; USH1C | USH1C GENE; USH1C
Affected State:Yes
Product:LCL
Gene:USH1C
Mutations突变:216G>A
Ethnicity:ACADIAN
Family:2116
Relationship:brother
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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