GM26088 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® GM26088 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; poor prenatal care; mother used alcohol and substance abuse during pregnancy; born at 34 weeks gestation; severe history of constipation since infancy; milestones: able to stand at 18 months and walked at 21 months; short bulbous nose; autism spectrum disorder; lack of coordination, loose joints, normocephalic; mild clinodactyly of 5th figner but no abnormality; spontaneous unintelligent speech; geneticist diagnosed 15q11.2q13.1 duplication through FISH; subject has 2 affected siblings (GM26087-brother and GM26089- half brother) and mother is also suspected of being affected (not in repository); father was 50 years old at the time of conception; medications for presumed mitochondrial disorder; leucovorin for presumed folic acid deficiency; vitamins; thyroid supplement; casein and gluten-free diet; vitamin C and magnesium citrate.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM26088
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:4 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:brother
Karyotype:46,XY[23].arr[hg19]15q11.2q13.1(23,670,971-28,709,280)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
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