GM24268 MYOPATHY, CENTRONUCLEAR, 1; CNM1 | DYNAMIN 2; DNM2 B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM24268 MYOPATHY, CENTRONUCLEAR, 1; CNM1 | DYNAMIN 2; DNM2 B-Lymphocyte Cell Line
肌病，核中心，1； CNM1 |动力2； DNM2细胞株
Description描述：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).
Category分类：B-Lymphocyte
ID编号:NTCC®-GM24268
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:21 YR
Gender性别:Male
Cell Type细胞类型: MYOPATHY, CENTRONUCLEAR, 1; CNM1 | DYNAMIN 2; DNM2
Affected State:Yes
Product:LCL
Gene:Dynamin 2
Mutations突变:GLU368LYS
Ethnicity:GERMAN/POLISH/ENGLISH/CZECH/IRISH/HUNGARIAN
Family:3071
Relationship:proband
Karyotype:
Tissue Type组织来源:Blood
Complete Growth Medium完全培养基: BioVector® Roswell Park Memorial Institute Medium 1640 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
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