Name細胞名稱：NTCC? GM13963 GLYCOGEN STORAGE DISEASE II | GLUCOSIDASE, ALPHA, ACID; GAA B-Lymphocyte Cell Line
糖原儲存病 II |葡萄糖苷酶、α、酸； GAA細胞株
Description描述：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).
Category分類：B-Lymphocyte
ID編號:NTCC?-GM13963
Size/Quantity數量: 1 Flask/2 Vials
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT/Dry Ice
Storage儲存方式: RT/Liquid Nitrogen
Race: White
Age年齡:5 MO
Gender性別:Female
Cell Type細胞類型: GLYCOGEN STORAGE DISEASE II | GLUCOSIDASE, ALPHA, ACID; GAA
Affected State:Yes
Product:LCL
Gene:GAA
Mutations突變:ARG854TER
Ethnicity:PAKISTANI
Family:
Relationship:proband
Karyotype:
Tissue Type組織來源:Blood
Complete Growth Medium完全培養基: BioVector? Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent Complete Medium
Subculturing傳代方法:
Cryopreservation凍存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培養條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鑒定數據:
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
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