GM06099结节性硬化症2； TSC2 | TSC2 基因； TSC2 B 淋巴细胞 LCL Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM06099 TUBEROUS SCLEROSIS 2; TSC2 | TSC2 GENE; TSC2 B-Lymphocyte Cell Line
结节性硬化症2； TSC2 | TSC2 基因； TSC2细胞株
Description描述：Clinically affected; seizures; hypomelanotic macules on left cheek; facial angiofibromas; confetti like hypopigmented macules scattered over lower legs; shagreen patches on posterior right shoulder, mid-upper back, mid-lower back, and right posterior thigh; adenoma sebaceum; two small scalp papules; ungual fibromas on left thumb and index finger and right thumb, index finger and middle finger; decreased visual acuity in right eye; donor subject has a splice acceptor mutation in the TSC2 gene [2743-1G>A] resulting in a skipped exon; polymorphisms in the TSC2 gene include 1100G>A, 2546-12C>T, 2639+44C>G, 2580T>C, and 5202T>C; same donor as GM06100 fibroblast.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM06099
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:22 YR
Gender性别:Female
Cell Type细胞类型: TUBEROUS SCLEROSIS 2; TSC2 | TSC2 GENE; TSC2
Affected State:Yes
Product:LCL
Gene:TSC2
Mutations突变:2743-1G>A
Ethnicity:
Family:2500
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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