NTCC® NA16824 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA16824

Name：NTCC® NA16824 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA16824
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: 23 MO
Gender性别: Male
Description描述: ALEXANDER DISEASE | GLIAL FIBRILLARY ACIDIC PROTEIN; GFAP
Remarks: Line ALX-1; floppy at birth; macrocephalic; at one month abnormal eye movements (sun-downing); CAT scan at two months showed borderline hydrocephalus and at four months decreased density white matter; by 11 months MRI showed frontal leukodystrophy; onset of seizures at 13 months; nasogastric tube at 16 months; respiratory, then cardiac arrest and death at 30 months; autopsy confirmed diagnosis; donor subject is heterozygous for a mutation in codon 239 of the GFAP gene; a C-to-T transition at nucleotide 729 (729C>T) results in an arg239-to-cys mutation [ARG239CYS (R239C)].
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: GFAP
Disease疾病类型:
Mutations突变: ARG239CYS
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