NTCC® NA25492 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA25492

Name：NTCC® NA25492 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA25492
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: 1 YR
Gender性别: Female
Description描述: DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A | GAP JUNCTION PROTEIN, BETA-2; GJB2 (CONNEXIN 26; CX26)
Remarks: Clinically affected; symptom onset at birth; diagnosed at age 7 months by a specialist (ENT/audiology); severe profound bilateral sensorineural hearing loss; normal temporal bone MRI; sequencing revealed the subject is a double heterozygote with two mutations in GJB2 gene: c.358_360delGAG resulting in p.Glu120del and c.585G>A resulting in p.Met195Ile; subject negative for mutations in GJB6 and PAX3 genes; normal SNP array: arr(1-22,X)x2 (Human Genome Build 37, hg19, 2009); assistive devices include: hearing aids.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: GJB2
Disease疾病类型:
Mutations突变: GLU120DEL MET195ILE
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