NTCC® NA11852 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA11852

Name：NTCC® NA11852 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA11852
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: Male
Description描述: TAY-SACHS DISEASE; TSD | HEXOSAMINIDASE A; HEXA
Remarks: Clinically affected; pregnancy complicated by vaginal bleeding at 10 weeks, and by brief episode of false pregnancy at 6 months; uncomplicated full-term birth; hyperbilirubinemia as neonate; history of 锟絙ehavioral锟?problems (colic, disinterest in toys, crying, rarely smiling, demanding parents锟?attention); examination at 8 months of age revealed bilateral macular pallor with prominence of fovea centralis (cherry red spots), poor visual fixation, abnormal startle response, decreased language, and decreased motor development (decreased tone in upper extremities, increased tone at both ankles with sustained clonus); progressive encephalopathy; developmental milestones include: rolled from front to back at 3 months (did not roll from back to front), sat without support at 6.5 months (unable to get to sitting position by himself), able to hold objects at 8 months (does not actively reach for objects); deficient hexosaminidase A activity in blood; donor subject is homozygous for a 4 base pair duplication in exon 11 of the HEXA gene, c.1274_1277dupTATC (p.Tyr427Ilefs), resulting in a premature termination signal; see GM11853 Fibroblast and GM23937 iPSC.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: HEXA
Disease疾病类型:
Mutations突变: c.1274_1277dupTATC
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