GM22364 DUPLICATED CHROMOSOME | CHROMOSOME 15Q11-Q13 DUPLICATION SYNDROME B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM22364 DUPLICATED CHROMOSOME | CHROMOSOME 15Q11-Q13 DUPLICATION SYNDROME B-Lymphocyte Cell Line
重复染色体|染色体 15Q11-Q13 重复综合征细胞株
Description描述：Clinically affected; defined as non-autistic by clinical impression (it is thought that ADHD may have caused ADOS scores to verge on ASD due to inattention, metalinguistic difficulties, and oppositional behavior); examination at 6 years old reports: ADOS calibrated severity score of 4, IQ of 83, variant EEG (excessive diffuse 18-22 Hz beta spikes in the waking record), broad forehead, long palpebral fissures, short nose, long philtrum, pointed chin, hernia, orbital facial asymmetry, ADHD; 5.7 mb de novo 15q interstitial duplication of paternal origin; refer to patient 801-005 as described by Urraca et al PMID: 23495136.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM22364
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:6 YR
Gender性别:Male
Cell Type细胞类型: DUPLICATED CHROMOSOME | CHROMOSOME 15Q11-Q13 DUPLICATION SYNDROME
Affected State:Yes
Product:LCL
Gene:
Mutations突变:
Ethnicity:
Family:
Relationship:proband
Karyotype:46,XY,dup(15)(q11q12).ish dup(15)(q11q12)(D15Z1+,GABRB3 enh,D15S11 enh).arr Yq11.223(24935853-25078094)x0,8q22.3(103288416-103522127)x3,15q11.2(21033790-21884433)x3,15q11.2q13.1(22282965-26500067)x3
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
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