NTCC® NA10354 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA10354

Name：NTCC® NA10354 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA10354
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄: 21 YR
Gender性别: Male
Description描述: USHER SYNDROME, TYPE IC; USH1C | USH1C GENE; USH1C
Remarks: Clinically affected; Acadian; 2 similarly affected sibs; vascular and pigmentary changes typical of RP; visual field defect; retinal abnormality; visual acuity without glasses is 20/25 in right eye and 20/30 in left at distant points; 113dB+ hearing loss for right ear and 116dB+ loss for left; poor manual and oral commun skill; profound bilateral sensorineural hearing loss; absent reflex thresholds for both ears; 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)
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: USH1C
Disease疾病类型:
Mutations突变: 216G>A
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
Origin:
Transformants:
Alias别名:
Images图片:
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