NTCC® NA13963 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA13963
- 价 格:¥59850
- 货 号:NTCC®-Coriell NA13963
- 产 地:北京
- BioVector NTCC典型培养物保藏中心
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地址:北京
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Name:NTCC® NA13963 LCL DNACategory分类:DNACat#货号:NTCC®-Coriell NA13963Size/Quantity数量: 1 VialBiosafety Level生物安全级别:1Shipping Info运输方式: RTStorage储存方式: 4CSpecies物种来源: Age年龄: 5 MOGender性别: FemaleDescription描述: GLYCOGEN STORAGE DISEASE II | GLUCOSIDASE, ALPHA, ACID; GAARemarks: Clinically affected; onset of symptoms at 3.5 months of age; diagnosis at 4 锟? months of age; died at 4 锟?months of age; difficulty breathing; cough; poor appetite and failure to thrive (<10th percentile head circumference, 25th percentile height and weight) ; hypotonia (unable to hold head or roll over); hyperreflexia; cardiomyopathy (echocardiogram revealed concentric hypertrophy of the posterior wall of the left ventricle and septum; no left ventricular outlet obstruction); 1% of normal alpha-D-glucosidase activity; cross-reactive immunological material (CRIM)-negative status confirmed by Western blot and GAA sequencing analyses (homozygous for p.Arg854X)(PMID:24044919); treatments include Captopril, Lasix, and percutaneous endoscopic gastrostomy; family history: parents are first cousins; donor subject had three unaffected siblings and one affected sibling (died at 4 months of age; cardiomegaly; cystic hygroma; elevated lactate, pyruvate and ammonia; muscle biopsy showed lysosomal glycogen inclusion consistent with Pompe disease).Alternate IDs其他编号: Cell Type细胞类型:
LCLSource组织来源: LCLGene: GAA Disease疾病类型: Mutations突变: ARG854TERKaryotypes核型: Cytogenetics: Mutation description突变描述: Origin: Transformants: Alias别名: Images图片: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
NTCC典型培养物保藏中心
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