GM14045 GLYCOGEN STORAGE DISEASE II | GLUCOSIDASE, ALPHA, ACID; GAA B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM14045 GLYCOGEN STORAGE DISEASE II | GLUCOSIDASE, ALPHA, ACID; GAA B-Lymphocyte Cell Line
糖原储存病 II |葡萄糖苷酶、α、酸； GAA细胞株
Description描述：Clinically affected; only 5% of acid maltase activity; son of father who is heterozygous for a T>C transition at nucleotide 953 in exon 5 of the GAA gene (c.953T>C) resulting in the substitution of threonine for methionine at codon 318 [Met318Thr (M318T)] and a mother who is heterozygous for a G>C transversion at nucleotide 2237 in exon 16 of the GAA gene (c.2237G>C) resulting in the substitution of serine for tryptophan at codon 746 [Trp746Ser (W746S)]; this subject has not been analyzed as yet; cross-reactive immunological material (CRIM)-positive status confirmed by Western blot and GAA sequencing analyses(PMID:24044919).
Category分类：B-Lymphocyte
ID编号:NTCC®-GM14045
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:
Age年龄:8 YR
Gender性别:Male
Cell Type细胞类型: GLYCOGEN STORAGE DISEASE II | GLUCOSIDASE, ALPHA, ACID; GAA
Affected State:Yes
Product:LCL
Gene:GAA
Mutations突变:MET318THR TRP746SER
Ethnicity:
Family:1672
Relationship:proband
Karyotype:
Tissue Type组织来源:Blood
Complete Growth Medium完全培养基: BioVector® Roswell Park Memorial Institute Medium 1640 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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