GM25250线状肌病 2，常染色体隐性遗传； NEM2 |星云蛋白； NEB B-淋巴细胞 LCL Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM25250 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; symptom onset at birth; diagnosed at age 18 months; hypotonia from birth; failure to thrive; developmental delay; respiratory failure, acute and chronic; ventilator dependent; cardiac murmurs; speech impairment; maximum motor function achieved: walk with assistance; echocardiogram performed with no outstanding findings; muscle biopsy of left thigh revealed myopathy with abundant nemaline rods; sequencing of the NEB gene revealed subject is compound heterozygous for two pathogenic mutations: c.8425C>T resulting in a premature protein termination (p.Arg2809Stop) in exon 61 and c.24317T>A resulting in a premature protein termination (p.Leu8106Stop) in exon 172; treatments: physical therapy, occupational therapy, psychological therapy, speech language therapy; medications: Flovent, Zyrtec, Albuterol PRN; surgeries: tracheostomy, g-tube, Vertical Expandable Prosthetic Titanium Rib (VEPTR); assistive devices: wheelchair, braces, orthotics; see fibroblast GM25251.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM25250
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:5 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:ARG2809* LEU8106*
Ethnicity:German, Scottish, Irish
Family:3179
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