首页 » NTCC® NA13963 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA13963

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
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BioVector NTCC典型培养物保藏中心
联系人:Dr.Xu, Biovector NTCC Inc.

电话:400-800-2947 工作QQ:1843439339 (微信同号)

邮件:Biovector@163.com

手机:18901268599

地址:北京

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Name:NTCC® NA13963 LCL DNA
Category分类:DNA
Cat#货号:NTCC®-Coriell NA13963
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: 5 MO
Gender性别: Female
Description描述: GLYCOGEN STORAGE DISEASE II | GLUCOSIDASE, ALPHA, ACID; GAA
Remarks: 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: LCL
Source组织来源: LCL
Gene: GAA
Disease疾病类型:
Mutations突变: ARG854TER
Karyotypes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
Tel电话:400-800-2947
Email:Biovector@163.com
http://www.biovector.net

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