NTCC® NA19696 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA19696

Name：NTCC® NA19696 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA19696
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄: 22 YR
Gender性别: Male
Description描述: GLYCOGEN STORAGE DISEASE VIII (IX, INCLUDED) | EHLERS-DANLOS SYNDROME, TYPE III
Remarks: 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
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
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Mutation description突变描述:
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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
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net