NTCC® NA18382 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA18382

Name：NTCC® NA18382 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA18382
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: 12 YR
Gender性别: Male
Description描述: CHERUBISM | SH3 DOMAIN-BINDING PROTEIN 2; SH3BP2
Remarks: Clinically affected; jaw cysts; overgrowth of upper and lower jaw; hypertelorism; round facial form with broad cheeks; slightly longer lower third of face; straight profile; long nasolabial angle; 3 mm diastema between the maxillary central incisors; ectopic labial position on the left mandibular incisor; severe spacing in maxillary arch; broad, V-shped mandibular arch; numerous swellings on mandibular arch and severe angulation inclination and rotations over the mandibular incisors; posterior cross bites, severe rotations, and buckle inclination of mandibular teeth; multilocular cystic lesions due to the giant cell lesions in mandible and maxilla; donor subject is heterozygous for a G>C transversion at nucleotide 1519 (1519G>C) in exon 9 of the SH3BP2 gene, resulting in a missense mutation at codon 420 [GLY420ARG (G420R)].
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: SH3BP2
Disease疾病类型:
Mutations突变: GLY420ARG
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