GM14526 GLYCOGEN STORAGE DISEASE II B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM14526 GLYCOGEN STORAGE DISEASE II B-Lymphocyte Cell Line
糖原贮积病 II细胞株
Description描述：Clinically affected; juvenile onset; donor subject is a compound heterozygote: one allele has a T>G transversion at position -13 of the acceptor site of intron 1 of the GAA gene (IVS1-13T>G) resulting in alternatively spliced transcripts with deletion of the first coding exon, exon 2; the second allele has a 2 bp deletion at nucleotide 2815 (c.2815_2816delGT) resulting in a frameshift and premature stop [Val939fsX78]; also identified in this subject is a third mutation of unknown disease effect: a G>A transition at nucleotide 448 (c.448G>A) resulting in the substitution of threonine for alanine at codon 150 [Ala150Thr (A150T)]; 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®-GM14526
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: Asian
Age年龄:17 YR
Gender性别:Female
Cell Type细胞类型: GLYCOGEN STORAGE DISEASE II
Affected State:Yes
Product:LCL
Gene:GAA
Mutations突变:2815_2816delGT IVS1AS, T>G, -13
Ethnicity:
Family:1741
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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