GM24523 NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2 | NEBULIN; NEB B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM24523 NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2 | NEBULIN; NEB B-Lymphocyte Cell Line
线状肌病 2，常染色体隐性遗传； NEM2 |星云蛋白；鼻细胞株
Description描述：Clinically affected; onset of symptoms at birth; drooling; poor weight gain; hypoventilation; BIPAP while sleeping and as needed; cough assist twice daily; at 9 months of age, donor achieved/maintains without assistance: holds up head, turns in bed; maximum motor function: sits unassisted;creatine kinase: 37 umol/L; gDNA was amplified and sequenced for full coding regions of NEB, SEPN1, and TPM3 and ~50 bases of flanking non-coding sequences; subject is compound heterozygous for the following mutations in the NEB gene: c.12018+1G>A (at the junction of exon 80 and intron 80) and c.24458_24461dupAGAT (p.Met8154IlefsStop13, exon 173).
Category分类：B-Lymphocyte
ID编号:NTCC®-GM24523
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:4 YR
Gender性别:Female
Cell Type细胞类型: NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2 | NEBULIN; NEB
Affected State:Yes
Product:LCL
Gene:NEB
Mutations突变:c.12018+1G>A c.24458_24461dupAGAT
Ethnicity:IRISH/GERMAN
Family:3141
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