GM08935 MYOCLONIC EPILEPSY OF LAFORA | NHL REPEAT-CONTAINING 1 GENE; NHLRC1 Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM08935 MYOCLONIC EPILEPSY OF LAFORA | NHL REPEAT-CONTAINING 1 GENE; NHLRC1 Cell Line
LAFORA 肌阵挛性癫痫 | NHL 重复包含 1 个基因；国家HLRC1细胞株
Description描述：Well until age 14, then progress decline in IQ; progressive seizures, myoclonus; wheelchair bound at age 18; hospitalized; rarely speaks; cranial nerves intact; no retinal abnormalities; negative family history; normal EMI scan; normal bone marrow; 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)]
Category分类：Fibroblast
ID编号:NTCC®-GM08935
Size/Quantity数量: 1 Flask/2 Vials
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT/Dry Ice
Storage储存方式: RT/Liquid Nitrogen
Race: White
Age年龄:19 YR
Gender性别:Male
Cell Type细胞类型: MYOCLONIC EPILEPSY OF LAFORA | NHL REPEAT-CONTAINING 1 GENE; NHLRC1
Affected State:Yes
Product:Fibroblast
Gene:NHLRC1
Mutations突变:PRO129HIS
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:
Complete Growth Medium完全培养基: BioVector® Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent Complete Medium
Subculturing传代方法:
Cryopreservation冻存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培养条件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鉴定数据:
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