GM08296 TUBEROUS SCLEROSIS 2; TSC2 | TSC2 GENE; TSC2 B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM08296 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; diagnosed with epilepsy at age 10 mo.; at age 2 yrs with TS; skin lesions at 10 mo.; height 165 cm and weight 65.3 kg at age 18 yr; numerous adenofibromas about face; shagreen patches; CT scan of brain revealed multiple punctate calcifications along periphery of lateral ventricles, consistent with calcified tubers of TS, parenchymal calcifications noted in right frontal and left temporo-parietal regions, bilobed or mushroom-shaped mass in the region of the left foramen of Monro (~2 x 2.5 cm); renal ultrasound showed numerous bilateral echogenic masses throughout both kidneys, most likely representing angiomyolipomas, associated with TS, the largest measured 3.5 x 2.5 cm; CT scan of kidneys revealed innumerable low density lesions thought out both kidneys, consistent with angiomyolipomas; MRI of the head showed findings consistent with residual or recurrent tumor in the region of the foramen of Monro (subependymal giant cell astrocytoma); son of GM08584; donor subject has a 1 bp insertion at nucleotide 2468 in exon 21 of the TSC2 gene (2468insT) causing a frameshift (Leu823fsX882)
Category分类：B-Lymphocyte
ID编号:NTCC®-GM08296
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:18 YR
Gender性别:Male
Cell Type细胞类型: TUBEROUS SCLEROSIS 2; TSC2 | TSC2 GENE; TSC2
Affected State:Yes
Product:LCL
Gene:TSC2
Mutations突变:2468insT
Ethnicity:
Family:2028
Relationship:half-brother
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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Email：Biovector@163.com
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