Name細胞名稱：NTCC? GM09070 USHER SYNDROME, TYPE IC; USH1C | USH1C GENE; USH1C B-Lymphocyte Cell Line
IC 型 USHER 綜合癥； USH1C | USH1C基因； USH1C細胞株
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分類：B-Lymphocyte
ID編號:NTCC?-GM09070
Size/Quantity數量: 1 Flask/2 Vials
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT/Dry Ice
Storage儲存方式: RT/Liquid Nitrogen
Race: White
Age年齡:21 YR
Gender性別:Male
Cell Type細胞類型: USHER SYNDROME, TYPE IC; USH1C | USH1C GENE; USH1C
Affected State:Yes
Product:LCL
Gene:USH1C
Mutations突變:216G>A
Ethnicity:ACADIAN
Family:2116
Relationship:brother
Karyotype:
Tissue Type組織來源:Blood
Complete Growth Medium完全培養基: BioVector? Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent Complete Medium
Subculturing傳代方法:
Cryopreservation凍存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培養條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鑒定數據:
References參考文獻:

Supplier供應商:BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net