NTCC® NA22766 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA22766

Name：NTCC® NA22766 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA22766
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: Female
Description描述: SMITH-MAGENIS SYNDROME; SMS | RETINOIC ACID-INDUCED GENE 1; RAI1
Remarks: Clinically affected; low set angular ears; upslanting eyes; hypertelorism seizures; frequent ear and respiratory infections; constipation; speech delay; intellectual disability; sleep disturbance; repetitive behaviors; delayed toilet training; donor subject has a G>T change at nucleotide 223 of the RAI1 gene resulting in the substitution of serine for alanine at codon 75 [Ala75Ser (A75S)]; mother is GM22767.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: RAI1
Disease疾病类型:
Mutations突变: ALA75SER
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