NTCC® NA08936 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA08936

Name：NTCC® NA08936 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA08936
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: MYOCLONIC EPILEPSY OF LAFORA | NHL REPEAT-CONTAINING 1 GENE; NHLRC1
Remarks: Seizure disorders at age 12; bedridden by age 17; ataxia & myoclonus; abnormal electroencephalogram with diffuse slowing & bursts of spikes & spike-waves; muscle bx in similarly aff older brother was positive for Lafora body epilepsy; donor subject is homozygous for a C>A transversion at nucleotide 386 of the NHLRC1 (EPM2B) gene (386C>A) resulting in the substitution of histidine for proline at codon 129 [Pro129His (P129H)]
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: NHLRC1
Disease疾病类型:
Mutations突变: PRO129HIS
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