GM25161 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® GM25161 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; diagnosed at age 7; symptom onset age 5-6 years; high-arched palate; scoliosis; generalized muscle weakness; respiratory insufficiency especially at night; fatigue;; muscle biopsy revealed nemaline myopathy; congenital myopathy testing via ACTA1 and NEB Gene sequencing revealed: heterozygous in exon 170 of the NEB gene for a sequence variant defined as c.24218C>A, which is predicted to result in premature protein termination (p.Ser8073*) and heterozygous in triplicated region of the NEB gene for a sequence variant defined as c.13059+5G>A; affected twin brother (not in repository) tested positive for both mutations; mother is unaffected carrier (GM25160).
Category分类：B-Lymphocyte
ID编号:NTCC®-GM25161
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: More than one race
Age年龄:7 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.13059+5G>A c.24218 C>A
Ethnicity:Filipino, German, Portuguese, Scottish
Family:3167
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