NTCC® NA21500 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA21500

Name：NTCC® NA21500 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA21500
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: 41 YR
Gender性别: Male
Description描述: EHLERS-DANLOS SYNDROME: TYPE IV; ARTERIAL, ECCHYMOTIC TYPE | COLLAGEN, TYPE III, ALPHA-1; COL3A1
Remarks: Clinically affected; severe skin findings; pain in left knee and right heel; osteoporosis; blue sclerae; quiet bowel sound; carotid bruit left; varicosities; blood pressure 116/64; poor wound healing; bruising; piezogenic papules; mild hyperextension and osteopenia in hips; joint limitations; mild disc herniation at C2-C3 and C3-C4; dural ectasia at L5-S1; anterolisthesis; L4-L5 disc buldge; donor subject has an A>G transversion in the 3' acceptor site of intron 15 of the COL3A1 gene [IVS15-2A>G] resulting in the skipping of exon 16; see GM21501 Fibroblast
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: COL3A1
Disease疾病类型:
Mutations突变: IVS15-2A>G
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