NTCC® NA21284 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA21284

Name：NTCC® NA21284 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA21284
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: 4 YR
Gender性别: Female
Description描述: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME; MVA | BUDDING UNINHIBITED BY BENZIMIDAZOLES 1, S. CEREVISIAE, HOMOLOG OF, BETA; BUB1B
Remarks: Clinically affected with mosaic variegated aneuploidy syndrome; intrauterine growth retardation; microcephaly; eye anomalies; multicystic kidney; donor subject has the following mutations on the BUB1B gene: 221-2insGTTA (protein effect S738fsX753) and 2441G->A (protein effect R814H); 58 percent of cells showed endoreduplication; 30 percent showed hyperdiploid abnormalities, especially chromosomes 8 and 12; mother's karyotype (46,XX) and father's karyotype (46, XY; 1 cell with tetraploidy and endoreduplication); parental cell lines not in the repository.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: BUB1B
Disease疾病类型:
Mutations突变: 4-BP INS, 2211GTTA ARG814HIS
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