GM26087 CHROMOSOME 15Q11-Q13 DUPLICATION SYNDROME | DUPLICATED CHROMOSOME B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM26087 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; premature delivery; mother abused benzodiazepine, alcohol, and marijuana before delivering child; mild hemorrhage in the brain; poor prenatal care; ex vacuo hydrocephalus; had plagiocephaly and wore helmet; macrocephaly greater than 95th percentile; one seizure; some facial dysmorphia with deep epicanthal folds, upturned nosed, long filtrum could be relative to short nose, anteriorly placed earlobes; extra nipple; hypopigmentation on right shin; height less than third percentile; has multiple caf锟?au-lait spots but not enough to call it syndromic for neurofibromatosis; accommodative estropia more on the left than right; speech delay; became non verbal at 26 months; regained speech at 4-5 years of age; autism spectrum disorder (severe); has OCD; delayed sleep disorder; geneticist diagnosed 15q11.2-13.2 duplication through FISH; subject has 2 affected siblings (GM26088-brother and GM26089- half brother) and mother is also suspected of being affected (not in repository); father was 49 years of age at the time of conception; medications include leucovorin, carnitine, vitamins, thyroid, and naltrexone.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM26087
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: Hispanic/Latino
Age年龄:5 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:Mexican
Family:3326
Relationship:proband
Karyotype:46,XY[24].arr[hg19]15q11.2q13.1(23,641,501-28,709,280)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
NTCC典型培养物保藏中心
Tel电话：400-800-2947
Email：Biovector@163.com
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