GM11661 GLYCOGEN STORAGE DISEASE II | GLUCOSIDASE, ALPHA, ACID; GAA Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM11661 GLYCOGEN STORAGE DISEASE II | GLUCOSIDASE, ALPHA, ACID; GAA Cell Line
糖原储存病 II |葡萄糖苷酶、α、酸； GAA细胞株
Description描述：Abnormal liver function tests; occasional charley-horse in legs during physical activity; morning headaches; intolerance to greasy foods; abdominal cyst; deficient fibroblast and WBC acid-alpha-1,4 glucosidase activity; donor subject is a compound heterozygote: allele one carries a T>G transversion at position -13 of the acceptor site of intron 1 of the GAA gene (IVS1-13T>G); the resulting alternatively spliced transcript has an in frame deletion of exon 2 which contains the initiation codon; allele two carries a deletion of exon 18
Category分类：Fibroblast
ID编号:NTCC®-GM11661
Size/Quantity数量: 1 Flask/2 Vials
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT/Dry Ice
Storage储存方式: RT/Liquid Nitrogen
Race: White
Age年龄:38 YR
Gender性别:Male
Cell Type细胞类型: GLYCOGEN STORAGE DISEASE II | GLUCOSIDASE, ALPHA, ACID; GAA
Affected State:Yes
Product:Fibroblast
Gene:GAA
Mutations突变:EX18DEL IVS1AS, T>G, -13
Ethnicity:ITALIAN
Family:1429
Relationship:proband
Karyotype:
Tissue Type组织来源:
Complete Growth Medium完全培养基: BioVector® Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent Complete Medium
Subculturing传代方法:
Cryopreservation冻存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培养条件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鉴定数据:
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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Email：Biovector@163.com
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