Name細胞名稱：NTCC? GM23984 MYOTUBULAR MYOPATHY 1; MTM1 B-Lymphocyte Cell Line
肌管性肌病 1； MTM1細胞株
Description描述：Affected; Mutation c.1088_1089delAA identified in MTM1 gene. Polymorphism: IVS2-14T>C. Subject has: hydrocephalus, developmental delay, hypotonia, muscle weakness, dysphagia, chronic respiratory insufficiency, tracheostomy and G tube; brain MRI findings: severe ventriculomegaly, marked white matter volume loss, increased T2 signal in the central tegmental tracts, asymmetry in the cerebellar hemispheres
Category分類：B-Lymphocyte
ID編號:NTCC?-GM23984
Size/Quantity數量: 1 Flask/2 Vials
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT/Dry Ice
Storage儲存方式: RT/Liquid Nitrogen
Race: White
Age年齡:2 YR
Gender性別:Male
Cell Type細胞類型: MYOTUBULAR MYOPATHY 1; MTM1
Affected State:Yes
Product:LCL
Gene:MTM1
Mutations突變:c.1088_1089delAA IVS2-14T>C
Ethnicity:Northern European,Italian
Family:
Relationship:proband
Karyotype:
Tissue Type組織來源:Blood
Complete Growth Medium完全培養基: BioVector? Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent Complete Medium
Subculturing傳代方法:
Cryopreservation凍存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培養條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鑒定數據:
References參考文獻:

Supplier供應商:BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
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