GM06120 TUBEROUS SCLEROSIS 1; TSC1 | TSC2 GENE; TSC2 B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM06120 TUBEROUS SCLEROSIS 1; TSC1 | TSC2 GENE; TSC2 B-Lymphocyte Cell Line
结节性硬化症1； TSC1 | TSC2 基因； TSC2细胞株
Description描述：Clinically affected; diagnosed at age 5; seizures began at 5 months of age; walked at 12 months of age; speech delay (spoke at 2.5-3 years old); retinal lesion at inferior medial aspect of the left disc; adenoma sebaceum on the face; multiple ash-leaf hypopigmented macules over the back, arm and chest; confetti-like hypopigmented macules on lower legs; papular fibromatous lesions over the posterior trunk; 3 cm shagreen patch on right flank; skin tags on anterior chest and neck; irregular cafe-au-lait spot over the left trunk and left knee; multiple ungual fibromas on fingers and toes; fibromas on the forehead and scalp; history of behavioral problems in childhood/early teen years: hyperactive, aggressive, mal-adaptive, easily distractible, low self-esteem, depression, anxiety, poor interpersonal skills; seizure-free between the ages of 15 months to 11 years (while taking phenobarbitol and Dilantin) and again from age 18 to age 22 (while taking Tegretol); WAIS evaluation revealed intellectual functioning at age 16 was at lower end of the average range; abnormal EEG (age 16 锟?presence of sharp, spike and slow waves in the right temporal region); age 16-basal ganglia calcifications on skull x-ray; CT scan at age 17 noted subependymal calcifications; abnormal EEG (age 21 锟?presence of mild to moderate diffuse slowing but no epileptiform features); normal kidney ultrasound at age 21; at age 22, normal neurological exam and emotional problems have subsided with medication and psychotherapy; no mutations were identified in the TSC1 or TSC2 genes using PCR direct sequencing of all coding exons and 50 bases of the flanking intron; polymorphisms in TSC2 include 1578C>T, 1600-14C>T, 2546-12C>T, 2580T>C, 2639+44C>G, 5202T>C, and 5397G>C; medication history: Tegretol, Dilantin, Phenobarbital, Mysoline, Mellaril, Ritalin, Thorazine; same donor as GM06121 fibroblast.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM06120
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:22 YR
Gender性别:Male
Cell Type细胞类型: TUBEROUS SCLEROSIS 1; TSC1 | TSC2 GENE; TSC2
Affected State:Yes
Product:LCL
Gene:
Mutations突变:
Ethnicity:
Family:2502
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
Tel电话：400-800-2947
Email：Biovector@163.com
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