GM24509 MYOTUBULAR MYOPATHY 1; MTM1 Skin, Skin Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM24509 MYOTUBULAR MYOPATHY 1; MTM1 Skin, Skin Cell Line
肌管性肌病 1； MTM1细胞株
Description描述：Clinically affected; diagnosed at 1 month; severe congenital hypotonia and respiratory failure at birth; bilateral congenital club foot; thoracic scoliosis; bilateral ptosis; intermittent exotrophia (R>L); constipation; abnormal CT scan showed craniosynostosis: near complete syntosis of the left coronal suture; able to sit without assistance; muscle biopsy-70% of muscle fiber with central nuclei and myotubules; mutation in the MTM1 gene of c.1180G>C; p.D394H; assistive devices include: ventilator; surgeries include bilateral heel cord lengthening; g-tube placement; tracheostomy; mother is a known carrier, donor subject has a healthy twin sister (neither are in repository).
Category分类：Fibroblast
ID编号:NTCC®-GM24509
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:1 MO
Gender性别:Male
Cell Type细胞类型: MYOTUBULAR MYOPATHY 1; MTM1
Affected State:Yes
Product:Fibroblast
Gene:MTM1
Mutations突变:c.1180G>C; p.D394H
Ethnicity:
Family:
Relationship:proband
Karyotype:46,XY[19]
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids 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