GM25308线状肌病 2，常染色体隐性遗传； NEM2 |星云蛋白； NEB成纤维细胞Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM25308 NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2 | NEBULIN; NEB 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; overall decreased muscle tone; left plagiocephaly; long narrow facies (scaphocephalic); facial hypotonia; cleft palate; severe scoliosis (47-53 degrees thoracolumbar); arthrogryposis multiplex congenital; ostium secundum type atrial septal defect; simple syndactyly of fingers; talipes; chalazions; chronic otitis media; severe oropharyngeal dysphagia; excessive drooling; restrictive lung disease (secondary to diagnosis); obstructive sleep apnea syndrome; developmental delay; speech impairment; maximum motor function achieved and maintained: holding head up and sitting without assistance; malignant hyperthermia precautions with anesthesia; whole exome sequencing revealed the subject to be compound heterozygous for two pathogenic nonsense mutations in the NEB gene: c.16984C>T (p.Q5662X) in exon 123 (paternally inherited) and c.19568T>G (p.L6523X) in exon 147 (maternally inherited); surgeries include: Mic-Key gastrostomy tube placement, abdominal laproscopic nissen fundoplication, tympanostomy tube insertion, tonsillectomy with adenoidectomy, palatoplasty; assistive devices: cough assist, scoliosis brace (4-6 hours/day), casting for club feet, bilateral long leg casts, lubricating ointment applied nightly for chalazions, treatments include: regular intake of Poly-V-Sol with iron; therapies include: PT/OT/ST through early intervention program (special ed 1 time/month, center-based program 5 days/week), water therapy.
Category分类：Fibroblast
ID编号:NTCC®-GM25308
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: NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2 | NEBULIN; NEB
Affected State:Yes
Product:Fibroblast
Gene:NEB
Mutations突变:c.16984C>T c.19568T>G
Ethnicity:Italian, German, Swiss
Family:3350
Relationship:proband
Karyotype:
Tissue Type组织来源:Tonsil
Complete Growth Medium完全培养基: BioVector® Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM 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