NTCC® NA21662 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA21662

Name：NTCC® NA21662 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA21662
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: 40 YR
Gender性别: Female
Description描述: EHLERS-DANLOS SYNDROME: TYPE IV; ARTERIAL, ECCHYMOTIC TYPE | COLLAGEN, TYPE III, ALPHA-1; COL3A1
Remarks: Clinically affected; abnormal motility of procollagen III; migraines resolved after pill; slight hearing loss; history of blood in urine; abnormal nasal bridge; micrognathia; blue-grey sclerae; heart murmur; midsystolic click; cyanosis; varicosities in lower legs; blood pressure 104/44; soft translucent velvety skin; piezogenic papules; scoliosis; hyperextension of shoulders, hips and knees; limited neck mobility; pes planus; disc disease noted at C4-C5 and C5-C6 with mild spinal canal stenosis; see GM21663 Fibroblast; donor subject is heterozygous for a G>A change at nucleotide 1618 of the COL3A1 gene (c.1618G>A) resulting in a substitution of arginine for glycine at codon 373 [Gly373Arg (G373R)]
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: GLY373ARG
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