GM18308 DYGGVE-MELCHIOR-CLAUSEN DISEASE | DYMECLIN; DYM B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM18308 DYGGVE-MELCHIOR-CLAUSEN DISEASE | DYMECLIN; DYM B-Lymphocyte Cell Line
迪格韦-梅尔基奥尔-克劳森病 |达美克林；迪玛细胞株
Description描述：Clinically affected; short trunk; rhizomelic shortening; increasing lordosis; platyspondyly; developmental delay; mental retardation; parents are consanguineous; donor subject is homozygous for a C>G point mutation at nucleotide 48 in exon 2 of the DYM (FLJ90130) gene (48C>G), resulting in a truncation and premature stop at codon 16 [TYR16TER (Y16X)]
Category分类：B-Lymphocyte
ID编号:NTCC®-GM18308
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: Hispanic/Latino
Age年龄:11 YR
Gender性别:Male
Cell Type细胞类型: DYGGVE-MELCHIOR-CLAUSEN DISEASE | DYMECLIN; DYM
Affected State:Yes
Product:LCL
Gene:DYM
Mutations突变:TYR16TER
Ethnicity:DOMINICAN REPUBLICAN
Family:2880
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
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net