NTCC® NA20218 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA20218

Name：NTCC® NA20218 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA20218
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: 8 MO
Gender性别: Female
Description描述: LANGER MESOMELIC DYSPLASIA | SHORT STATURE HOMEOBOX; SHOX
Remarks: Clinically affected; anthropometric measurements at age 8 months: height = 57.5 cm, weight = 5.88 kg, head circumference = 45.2 cm; birth length 17 3/4 inches; developmentally normal at 8 months of age; severe shortening of forearms with ulnar deviation; decreased extension of the third and fourth fingers of each hand; mild tibial bowing; unusual foreshortening of the forearms and lower legs; mild micrognathia; elevated 17-hydroxyprogesterone on newborn screen; diagnosis of non-classic 21-hydroxylase deficiency made in newborn period; no ambiguous genitalia; donor subject is homozygous for a deletion of the SHOX allele. 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
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