GM24346 MYOTUBULAR MYOPATHY 1; MTM1 Skin, Skin Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM24346 MYOTUBULAR MYOPATHY 1; MTM1 Skin, Skin Cell Line
肌管性肌病 1； MTM1细胞株
Description描述：Affected; born with hypoxic ischemic encepalopathy-required suction, warming, intubation and positive pressure ventilation with cardiac compression at birth; significantly reduced tone in upper extremities at birth; myopathic facies (dolichocephaly, high forehead, long face, slight midface hypoplasia); required continuous CPAP due to pulmonary insufficiency/diaphragm paresis; required orogastric tube feeding due to myopathy and swallowing dysfunction; thrombocytopenia; osteopenia; muscle biopsy revealed significant increase in central nuclei and predominantly type 1 muscle atrophy; diagnosis confirmed by genetic testing; MTM1 gene mutation: IVS11-10A>G; abnormal MRI or CT scan showed hydrocephalus; subject passed away at 15 months.
Category分类：Fibroblast
ID编号:NTCC®-GM24346
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:15 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:IVS11AS, A-G, -10
Ethnicity:
Family:
Relationship:proband
Karyotype:
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
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