NTCC® NA20185 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA20185

Name：NTCC® NA20185 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA20185
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: 12 YR
Gender性别: Male
Description描述: DEAFNESS, AUTOSOMAL RECESSIVE 28; DFNB28 | TRIO- AND F-ACTIN-BINDING PROTEIN; TRIOBP
Remarks: Clinically affected; hearing loss confirmed by audiometry; product of consanguineous marriage; two affected brothers; father is GM20184; donor subject is homozygous for a nonsense mutation: a C>T transion at nucleotide 2362 (2362C>T) in exon 6 of the long isoform of the TRIOBP gene, resulting in an Arg788 to stop [Arg788Ter (R788X)]
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: TRIOBP
Disease疾病类型:
Mutations突变: ARG788TER
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