Name細胞名稱：NTCC? GM24370 MYOPATHY, CENTRONUCLEAR, 1; CNM1 | DYNAMIN 2; DNM2 B-Lymphocyte Cell Line
肌病，核中心，1； CNM1 |動力2； DNM2細胞株
Description描述：Clinically affected; onset of symptoms at birth; no motor function ever achieved; cardiac and brain involvement; de novo mutation in the DNM2 gene: c.1115T>C (likely pathogenic), c.2139 T>C (likely benign), c.858-12C>A; has 24 hour breathing support with tracheal tube and full ventilator use; deceased at close to 3 years of age; parents (not in repository) are negative for any of the variants in the subject.
Category分類：B-Lymphocyte
ID編號:NTCC?-GM24370
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:6 MO
Gender性別:Male
Cell Type細胞類型: MYOPATHY, CENTRONUCLEAR, 1; CNM1 | DYNAMIN 2; DNM2
Affected State:Yes
Product:LCL
Gene:Dynamin 2
Mutations突變:c.1115T>C (p.Phe372Ser)
Ethnicity:GERMAN
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:

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