GM20089 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® GM20089 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 age 4 months with severe obstructive hypertrophic cardiomegaly, hypotonia, failure to thrive, and global developmental delay; deficiency of acid alpha-glucosidase activity in muscle; isolated left cleft lip with intact palate; died at age 8 months; donor subject is homozygous for an intragenic deletion of exon 18 [del ex18]; mother is GM20123; both parents confirmed heterozygotes for GAA gene deletion of exon 18.
Category分类：Fibroblast
ID编号:NTCC®-GM20089
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:4 MO
Gender性别:Female
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
Ethnicity:DUTCH
Family:2445
Relationship:proband
Karyotype:
Tissue Type组织来源:Skin
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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