GM24356 CENTRAL CORE DISEASE OF MUSCLE B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM24356 CENTRAL CORE DISEASE OF MUSCLE B-Lymphocyte Cell Line
中央核心肌肉疾病细胞株
Description描述：Clinically affected; hypotonia; developmental delay; gross motor delays; generalized weakness of neck extension/flexion; mild rigid spine; mild central apneas; small apical pericardial effusion; able to sit independently, but not able to get to seated position; achieved without assistance and still maintains the following: held head up at 15 months, turned in bed at 18 months and sat at 18 months; CMD confirmed by muscle biopsy and RYR1 mutation analysis; heterozygous in exon 93 of the RYR1 gene for an undocumented variant of uncertain clinical significance defined as c.13600_13602del that is predicted to result in the in-frame deletion of a single amino acid (p.Lys4534del); muscle biopsy with SDH and COX stains: myopathic with central cores; electron microscopy finds rare myofibers showing myotubules and only a small percentage of myofibers containing centrally located nuclei; asymptomatic father also has RYR1 variant with unknown significance; paternal cousin with pectus excavatum and heart problem.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM24356
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:2 YR
Gender性别:Male
Cell Type细胞类型: CENTRAL CORE DISEASE OF MUSCLE
Affected State:Yes
Product:LCL
Gene:RYR1
Mutations突变:LYS4534del
Ethnicity:
Family:
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