GM21715染色体 15Q11-Q13 重复综合征 |重复染色体 B 淋巴细胞 LCL Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM21715 CHROMOSOME 15Q11-Q13 DUPLICATION SYNDROME | DUPLICATED CHROMOSOME B-Lymphocyte Cell Line
染色体 15Q11-Q13 重复综合症 |重复染色体细胞株
Description描述：Clinically affected; long standing history of cognitive and socialization difficulties as well as a history of self-stimulatory behaviors, social peer interaction difficulties, and mild regimentation; delivered by C-section with a birth weight of 6 lbs 9 oz; apgar scores of 8 and 9 at 1 and 5 minutes respectively; developmental and motor delay; did not sit independently until 12 months of age; walked at 15 months; did not develop consistent short phrases until 36 months; bladder control at 36 months; shy, prefers to be alone; echolalia; receives occupational and speech therapy a few times a week; constipated; interactive and loving with his immediate family; examination at 7 years old reports: autism spectrum disorder, ADOS calibrated severity score of 6, IQ of 79, variant EEG (excessive diffuse 18-22 Hz beta spikes in the waking record), short nose, anteverted nares, long philtrum, wide mouth, relaxed facial muscles, hernia, and attention deficit; 8.2 mb de novo 15q interstitial duplication of maternal origin; refer to patient 801-002 as described by Urraca et al PMID: 23495136.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM21715
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: Black/African American
Age年龄:7 YR
Gender性别:Male
Cell Type细胞类型: CHROMOSOME 15Q11-Q13 DUPLICATION SYNDROME | DUPLICATED CHROMOSOME
Affected State:Yes
Product:LCL
Gene:
Mutations突变:
Ethnicity:AFRICAN-AMERICAN
Family:
Relationship:proband
Karyotype:46,XY,dup(15)(q11.2q13).ish dup(15)(q11.2q13)(D15Z1+,D15S11++,GABRB3++).arr 15q11.2(19535697-20089383)x3,15q11.2q13.1(21500758-26084762)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:

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