GM03329 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® GM03329 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：Infantile onset; normal size (3.6 kb) and amount of mRNA for GAA, GAA protein detected by antibody, but deficient acid-alpha-1,4 glucosidase (0.35%); hypotonia; donor subject is a compound heterozygote with only one allele expressed: allele one carries a A>G transition at nucleotide 1555 (1555A>G) in exon 11 which results in a substitution of valine for methionine at codon 519 [Met519Val (M519V)]; allele two (the silent allele) contains a G>A transition at the first nucleotide of intron 8 (IVS8+1G>A) of the GAA gene which results in a splicing defect at the 5锟?donor site; this rare allele was also found in GM12932 and 18 polymorphisms in the GAA gene were identical in both lines suggesting common ancestry (Raben et al. Hum. Mutat. 13:83-84 (1999)].
Category分类：Fibroblast
ID编号:NTCC®-GM03329
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:2 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:IVS8+1G>A MET519VAL
Ethnicity:
Family:
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
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