Name：NTCC? NA13963 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA13963
Size/Quantity數量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 5 MO
Gender性別: 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 錕? months of age; died at 4 錕?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其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: GAA
Disease疾病類型:
Mutations突變: ARG854TER
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻:

Supplier供應商:
BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net