NTCC® NA20197 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA20197

Name：NTCC® NA20197 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA20197
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: 13 YR
Gender性别: Female
Description描述: DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49 | MARVEL DOMAIN-CONTAINING PROTEIN 2; MARVELD2
Remarks: Clinically affected; hearing loss confirmed by audiometry; product of consanguineous marriage; mother is GM20196; donor subject is homozygous for a donor splice site mutation: IVS4+2T>C in the MARVELD2 (TRIC) gene which causes the skipping of exon 4 resulting in a frameshift and premature termination of translation (p.C395fsX403)
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: MARVELD2
Disease疾病类型:
Mutations突变: IVS4+2T>C
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