GM19694糖原储存疾病 VIII（含 IX）| EHLERS-DANLOS 综合征，III 型 B 淋巴细胞 LCL Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM19694 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; at 9 months had cessation of growth, excess weight gain (75th percentile) and enlarged liver; treated with high protein diet and Viokase; weight was over 95% by 18 months and off the charts by age 30 months; weight gain began to drop at age 4; at age 6 years height and weight were normal; learning disability associated with spatial sequential issues; symptoms of Ehlers-Danlos syndrome hypermobility type include chronic joint pain in shoulders and knees, pes planus, and bilateral hiatal hernias; diagnosis of EDS has not been confirmed clinically; mother (GM19634) is clinically affected with EDS hypermobility type; clinically affected father is GM19687; 2 brothers clinically affected with GSD IX, including GM 19696; brother not clinically affected with GSD IX is GM19698; same donor as GM19693 Fibroblast
Category分类：B-Lymphocyte
ID编号:NTCC®-GM19694
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:26 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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