NTCC® NA19977 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA19977

Name：NTCC® NA19977 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA19977
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: 7 YR
Gender性别: Male
Description描述: SOTOS SYNDROME | NUCLEAR RECEPTOR-BINDING Su-var, ENHANCER OF ZESTE, AND TRITHORAX DOMAIN PROTEIN 1; NSD1
Remarks: Clinically affected; born at term; birthweight 3.5 kg (50th centile); jaundice and hypotonia in neonatal period; presented with moderate-severe intellectual impairment, overgrowth, and Sotos facial gestalt; at 20 months height was 90th centile, weight was >99.6th centile, head circumference was 9th centile; reflex anoxic seizures; ankle contractures; no family history of Sotos syndrome or intellectual impairment; unaffected mother (GM19975) has no NSD1 mutations; normal bone age; 46,XY; negative Fragile X testing; donor subject found to carry an insertion, 6450-1insC, in exon 22 of the NSD1 gene causing a frameshift mutation (K2151fsX2165).
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: NSD1
Disease疾病类型:
Mutations突变: 1-BP INS, 6450C
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