NTCC® NA21762 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA21762

Name：NTCC® NA21762 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA21762
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: 25 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; iliac aneurysm; abnormal auricles (attached lobes); asymmetric nose; high palate; blue sclerae; carotid bruit right; blood pressure 129/74; bruising; scoliosis; hyperextension of shoulders, elbows and knees; pes planus; genu valga; Beighton score 2/9; disc extrusion C6-C7; disc disease C5-C6 and L3-S1; facet arthrosis; lateral disc buldge T6-T7; affected father is GM21566; donor subject is heterozygous for a C>T transition at nucleotide 3070 in exon 43 of the COL3A1 gene (c.3070C>T) resulting in the substitution of a stop codon for an arginine at codon 1024 [Arg1024Ter (R1024X)]
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: ARG1024TER
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