NTCC® NA22051 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA22051

Name：NTCC® NA22051 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA22051
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: 29 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; big eyes; soft auricles; had palate expanded; micrognathia; high palate; blue sclerae; downsloping ribs; grade 3/6 murmur in USB; cyanosis; left foot is colder than right; soft skin; cigarette paper scars; easy bruising; discolored scars on legs; upper thoracic scoliosis; kyphosis; hyperextensibility in shoulders, elbows, knees, and CMC, MCP, PIP and DIP joints; pes planus; genu valga; migraines; chest pain is movement related; occasional abdominal pain and bloating; in the right M2 segment of middle cerebral artery there is a slight bulbous appearance of proximal branch; minimal disc disease from C3-7, dural ectasia in lower thoracic spine and lumbar with eccentric nucleus pulposus; disc desiccation at L4-S1; small hemangioma in S2 vertebral body; diffuse disc buldge at L4-5; donor subject has a G>A transition at nucleotide 2123 in exon 32 of the COL3A1 gene (c.2123G>A) resulting in the substitution of aspartic acid for glycine at codon 708 [Gly708Asp (G708D)]
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: GLY708ASP
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