NTCC® NA00515 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA00515

Name：NTCC® NA00515 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA00515
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: TAY-SACHS DISEASE; TSD | HEXOSAMINIDASE A; HEXA
Remarks: Pericardium fibro cult; Jewish; similarly aff sib; def hexosaminidase A activ; electrophoresis shows absence of A band; no detectable alpha chain synthesis; no detectable alpha chain mRNA; donor subject is a compound heterozygote: one allele has a 4-bp insertion in exon 11 of the HEXA gene [4 bp ins] that introduces a premature termination signal in exon 11 resulting in deficiency of mRNA and a second allele has a point mutation in exon 11 of the HEXA gene resulting in a substitution of a termination signal for tryptophan at codon 392 [Trp392Ter (W392X)].
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: HEXA
Disease疾病类型:
Mutations突变: c.1274_1277dupTATC TRP392TER
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