NTCC® NA23277 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA23277

Name：NTCC® NA23277 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA23277
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: 16 YR
Gender性别: Female
Description描述: CHROMOSOME 2Q37 DELETION SYNDROME | HISTONE DEACETYLASE 4; HDAC4
Remarks: Clinically affected; mental retardation; behavioral problems (agression and self-injurious behavior like skin picking); obesity; mild type E brachydactyly; developmental delay; motor delay; language impairment; sleeping difficulties; decreased sensitivity to pain; short stature; broad face; upslanting eyes; broad, not upturned nose; small chin; narrow palpebral fissures; constipation; hypermobility; bitemporal narrowing; dental anomalies; donor subject is heterozygous for a de novo 65 bp deletion in intron 5 of the HDAC4 gene (490+56_121del65) predicted to alter the splicing of exons 5 and 6
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: HDAC4
Disease疾病类型:
Mutations突变: 65-BP DEL, NT490+56
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