NTCC® NA10892 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA10892

Name：NTCC® NA10892 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA10892
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: 22 FW
Gender性别: Male
Description描述: THANATOPHORIC DYSPLASIA; TD | FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3
Remarks: Short-limbed platyspondylia; megalencephaly; temporal lobe dysplasia; bellshaped thorax; shortened ribs and long bones; bowed femora; kyphosis; parents are GM10893 and 10894 Lymphoid; donor subject has a C>T transition at nucleotide 742 in exon 6 of the FGFR3 gene (742C>T) resulting in a substitution of cysteine for arginine at codon 248 [Arg248Cys (R248C)]
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: FGFR3
Disease疾病类型:
Mutations突变: ARG248CYS
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