GM19696 GLYCOGEN STORAGE DISEASE VIII (IX, INCLUDED) | EHLERS-DANLOS SYNDROME, TYPE III B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM19696 GLYCOGEN STORAGE DISEASE VIII (IX, INCLUDED) | EHLERS-DANLOS SYNDROME, TYPE III B-Lymphocyte Cell Line
糖原储存疾病 VIII（含 IX）|埃勒斯-当洛斯综合征，III 型细胞株
Description描述：Clinically affected with GSD IX; diagnosed at three months based on low muscle tone and failure to thrive; prolonged jaundice in infancy; some hypoglycemia treated with pancreatic enzymes and frequent meals; hepatomegaly in childhood; macroglossia; severe sleep apnea present since infancy; frequent respiratory infections; symptoms of EDS hypermobility type include: chronic joint pain in knees, shoulders, and neck; two jaw dislocations during surgery; pes planus; muscle hypotonia; and hiatal hernia; diagnosis of EDS could not be made based on clinical findings at the time of evaluation; mother (GM19634) is clinically affected with EDS hypermobility type; clinically unaffected father is GM19687; 2 brothers affected with GSD IX including GM19694; brother not clinically affected with GSD IX is GM19698; same donor as GM19695 Fibroblast
Category分类：B-Lymphocyte
ID编号:NTCC®-GM19696
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:22 YR
Gender性别:Male
Cell Type细胞类型: GLYCOGEN STORAGE DISEASE VIII (IX, INCLUDED) | EHLERS-DANLOS SYNDROME, TYPE III
Affected State:Yes
Product:LCL
Gene:
Mutations突变:
Ethnicity:SCOTTISH/IRISH/ENGLISH
Family:2359
Relationship:son
Karyotype:
Tissue Type组织来源:Blood
Complete Growth Medium完全培养基: BioVector® Roswell Park Memorial Institute Medium 1640 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
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