NTCC® NA20173 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA20173

Name：NTCC® NA20173 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA20173
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: 60 YR
Gender性别: Male
Description描述: DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49 | MARVEL DOMAIN-CONTAINING PROTEIN 2; MARVELD2
Remarks: Clinically normal of two affected daughters; affected daughter is GM20172; donor subject is heterozygous for a donor site mutation: a deletion of TGAG at positons 2-5 in the cryptic splice-donor site of IVS4 (IVS4+2delTGAG) of the MARVELD2 (TRIC) gene [the mRNA uses the site that introduces 23 bp of intron 4 which results in a premature stop codon (p.K445fsX461)]
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+2delTGAG
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