NTCC® NA19978 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA19978

Name：NTCC® NA19978 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA19978
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: 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 35-36 weeks gestation; birth weight 3.18 kg (91st centile); jaundice and feeding difficulty in neonatal period; severe intellectual impairment; overgrowth; height 91-98th centile; weight >99.6th centile; head circumference 98th centile; no family history of Sotos syndrome or intellectual impairment; unaffected parents negative for NSD1 mutations; mother is GM19976; father is GM19974; advanced bone age; 46,XY; negative Fragile X testing; donor subject found to have missense mutation, a G>A change at nucleotide 6014 in exon 20 of the NSD1 gene (6014G>A) causing an arginine to glutamine change at codon 2005 [Arg2005Gln (R2005Q)].
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: ARG2005GLN
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