GM20091 GLYCOGEN STORAGE DISEASE II | GLUCOSIDASE, ALPHA, ACID; GAA Skin, Unspecified Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM20091 GLYCOGEN STORAGE DISEASE II | GLUCOSIDASE, ALPHA, ACID; GAA Skin, Unspecified Cell Line
糖原储存病 II |葡萄糖苷酶、α、酸； GAA细胞株
Description描述：Clinically affected; presented at birth with bilateral severe cleft lip and palate, deep sacral dimple, and bilateral hydrocele; hypertrophic cardiomyopathy; hypotonia, head lag, and hepatomegaly noted at age 2 months; deficiency of acid alpha-glucosidase in fibroblasts (0.2 versus control of 31 nmoles substrate hydrolyzed/mg protein); high-resolution chromosomes normal; died at age 14 months; donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 172 in exon 2 of the GAA gene [172C>T] resulting in a substitution of a termination codon for glutamine at codon 58 [Gln58Stop(Q58X)] and a second allele has a single nucleotide deletion (threonine) at position 525 in exon 2 of the GAA gene [del525T].
Category分类：Fibroblast
ID编号:NTCC®-GM20091
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:2 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:1-BP DEL, 525T GLN58TER
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM 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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