GM25151 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® GM25151 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 5 years; symptom onset at birth; high arched palate; very weak suck; swallowing dysfunction; aspiration; failure to thrive; motor delay; skeletal muscle weakness; respiratory weakness; drooling; speech impairment; maximum motor function achieved: climb 4 stairs with handrail; electron microscopy result: biopsy of the left gluteus muscle showed chronic myopathy with excessive accumulation of rod structures, indicative of nemaline rod myopathy, and fatty replacement within the muscle; NEB gene sequencing test result: heterozygous in the NEB gene for a mutation defined as c.3252_3255+3delTGACGTA, which includes the terminal four nucleotides of exon 32 and the first three nucleotides of intron 32, this region covers the conserved GT splice donor signal; array comparative genomic hybridization (aCGH) test result: heterozygous for ~2.7 kb deletion within the NEB gene encompassing exon 77 with genomic locations 152,469,299 in intron 77 and 152,471,995 in intron 76 (GRCh37/hg19); management: physical therapy, occupational therapy, psychological therapy and speech language therapy; surgeries:pharyngeal flap, g-tube, and tonsillectomy; medications: l-tyrosine + l-carnitine, Miralax, Prilosec, mesalamine; assistive devices: wheelchair, orthotics, service animal, respiratory support used at night.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM25151
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:16 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.3252_3255+3DELTGACGTA del encompassing exon 77
Ethnicity:French/Canadian, Scandinavian, German
Family:3164
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