GM26074 TUBEROUS SCLEROSIS, TYPE UNKNOWN Skin, Back Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM26074 TUBEROUS SCLEROSIS, TYPE UNKNOWN Skin, Back Cell Line
结节性硬化症，类型未知细胞株
Description描述：Clinically affected; skin fibroblast derived from biopsied hypopigmented macule tissue; onset of symptoms at 6 months of age; diagnosed at 17 months; complex partial seizures; small confluent hypopigmented macules on back; mild right hemiparesis- involving hand more than the leg; developmental delay- at age 2: walks with a steady gait and good balance; has 50-100 spontaneous words, combines 2-3 words ; abnormal MRI: small subependymal nodules noted in both lateral ventricles, cortical dysplasia/tubers in anterior left frontal lobe, posterior left frontal lobe (cortical thickening), left occipital lobe and right parietal lobe; abnormal EEG: potential epileptogenicity in the left frontal region; whole exome sequencing did not reveal any identified pathogenic variants in TSC1 or TSC1; normal Affymetrix CytoScan; management: physical and occupational therapy; medications include: Keppra and Diastat; family history: no known history of tuberous sclerosis, subject has 3 healthy older brothers; maternal uncle has congenital mental handicap and seizures of unknown etiology.
Category分类：Fibroblast
ID编号:NTCC®-GM26074
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:2 YR
Gender性别:Female
Cell Type细胞类型: TUBEROUS SCLEROSIS, TYPE UNKNOWN
Affected State:Yes
Product:Fibroblast
Gene:
Mutations突变:
Ethnicity:Old Order Mennonite
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM 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
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net