NTCC® NA20217 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA20217

Name：NTCC® NA20217 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA20217
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: 50 YR
Gender性别: Male
Description描述: LANGER MESOMELIC DYSPLASIA | SHORT STATURE HOMEOBOX; SHOX
Remarks: Clinically affected; anthropometric measurements at age 50 years: height = 146.7 cm, weight = 117 lbs, head circumference = 57.8 cm; curvature of forearms noted at birth; increased carrying angle; Madelung's wrist deformity; hydrocele repair; bilateral osteotomies on femurs and derotation of hips for treatment of in toeing during childhood; attention-deficit disorder diagnosed in adulthood; acid reflux; donor subject is a compound heterozygote: one allele has a complete deletion of one SHOX gene and a second allele has a deletion of DXYS233. Exon duplications or deletions were not ruled out, apart from the deletions detected by FISH with a SHOX cosmid.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: SHOX
Disease疾病类型:
Mutations突变: DEL del DXYS233
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