GM25395 CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME | CONTACTIN-ASSOCIATED PROTEIN-LIKE 2; CNTNAP2 B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM25395 CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME | CONTACTIN-ASSOCIATED PROTEIN-LIKE 2; CNTNAP2 B-Lymphocyte Cell Line
皮质发育不良-局灶性癫痫综合征|接触素相关蛋白样 2； CNTNAP2细胞株
Description描述：Clinically affected; diagnosed at 3 years; onset of medically intractable complex partial seizures at 22 months old, sleep-onset seizures with 3 to 4 additional events per day; developmental delay; language regression (stagnant language acquisition after seizure onset at 22 months); autism; hyperactivity; inattentiveness; impulsivity; total lack of fear/self-preservation responses; milestones: walked alone at 23 months; homozygous mutation c.3709delG in the CNTNAP2 gene; medications: LTG (Lamotrigine), TPM (Topiramate), CLON (Clonazepam); Respiradone trial discontinued due to continuing screaming fits and temper tantrums; eventually weaned to LTG monotherapy; unaffected carrier father: GM25396 and unaffected carrier mother: GM25397.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM25395
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:4 YR
Gender性别:Female
Cell Type细胞类型: CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME | CONTACTIN-ASSOCIATED PROTEIN-LIKE 2; CNTNAP2
Affected State:Yes
Product:LCL
Gene:CNTNAP2
Mutations突变:c.3709delG
Ethnicity:Amish
Family:3215
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
http://www.biovector.net