NTCC® NA17413 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA17413

Name：NTCC® NA17413 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA17413
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: 7 YR
Gender性别: Male
Description描述: OSTEOGENESIS IMPERFECTA, TYPE IV; OI4 | COLLAGEN, TYPE I, ALPHA-2; COL1A2
Remarks: Clinically affected; white sclerae; good dentition; history of joint laxity; elevated alkaline phosphatase; bone density score for spine and hip (neck) indicates osteoporosis; history of one fracture; donor is heterozygous for the founder mutation which is a missense mutation resulting from a substitution of G>T at nucleotide 2237 in codon 610 in exon 35 of the COL1A2 gene [Gly610Cys (G610C)]; affected father is GM17410 (Fibro); same subject as GM17414 (Fibro) and GM27925 (iPSC)
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: COL1A2
Disease疾病类型:
Mutations突变: GLY610CYS
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