NTCC® NA21459 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA21459

Name：NTCC® NA21459 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA21459
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: 55 YR
Gender性别: Female
Description描述: EHLERS-DANLOS SYNDROME, TYPE I; EDS1 | COLLAGEN, TYPE V, ALPHA-1; COL5A1
Remarks: Clinically affected; classical type; midsystolic click; varicosities; soft hyperextensible skin; cigarette paper scarring on knees and shoulders; striae on back; easy bruising; Beighton score = 5/9; donor subject has an insertion of a C at nucleotide 2160 in exon 26 of the COL5A1 gene (2160insC) resulting in a frameshift and truncation at codon 721 (R721fsX725)
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: COL5A1
Disease疾病类型:
Mutations突变: 2160insC
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