NTCC® NA24268 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA24268

Name：NTCC® NA24268 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA24268
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: 21 YR
Gender性别: Male
Description描述: MYOPATHY, CENTRONUCLEAR, 1; CNM1 | DYNAMIN 2; DNM2
Remarks: Clinically affected; able to run with both feet leaving the ground; walks without assistance greater than 10 steps; using genomic DNA, PCR was used to amplify exon 8 of the DNM2 gene; bi-directional sequence analysis was performed to evaluate for the mutation in the DNM2 gene; a heterozygous G>A nucleotide change was identified; this missense mutation leads to the replacement of the normal glutamic acid codon (GAG) with a lysine codon (AAG) at position 368 of the resultant protein GLU368LYS (E368K); unaffected father is GM23795(Lymph); unaffected mother is GM23794(Lymph); unaffected brother is GM23793(Lymph).
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: Dynamin 2
Disease疾病类型:
Mutations突变: GLU368LYS
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