GM04912 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® GM04912 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：Biventricular hypertrophy, enlarged tongue, areflexia, decreased muscle tone, slightly enlarged liver, respiratory difficulties, fever, and cyanosis; expired at age 6 months; negative family history; no detectable mRNA for GAA; no GAA protein detected by antibody; deficient acid-alpha-1,4 glucosidase activity (0.21%); normal debrancher enzyme activity; donor subject is a compound heterozygote: allele one has a deletion of a T at nucleotide 1441 (1441delT) in exon 10 of the GAA gene resulting in a frameshift and premature termination 39 amino acids downstream from the mutation site; allele two carries a G>A transition at nucleotide 2237 in exon 16 (2237G>A) which results in the conversion of a tryptophan at amino acid 746 to a nonsense codon [Trp746Ter (W746X)]
Category分类：Fibroblast
ID编号:NTCC®-GM04912
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: Black/African American
Age年龄:4 MO
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:1441delT TRP746TER
Ethnicity:
Family:2440
Relationship:proband
Karyotype:
Tissue Type组织来源:
Complete Growth Medium完全培养基: BioVector® Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids 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
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net