GM23345体重指数定量性状基因座 20； BMIQ20 |黑皮质素 4 受体； MC4R B 淋巴细胞 LCL Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM23345 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ20 | MELANOCORTIN 4 RECEPTOR; MC4R B-Lymphocyte Cell Line
体重指数定量性状基因座 20； BMIQ20 |黑皮质素 4 受体； MC4R细胞株
Description描述：Clinically affected; night terrors at 18 months old; food obsession and weight gain at 3 years old; food seeking and food hiding behaviors at 5 years old; hyperphagia; behavior problems including rage episodes and impulsivity; anxious; attention deficient hyperactivity disorder; hypercholesterolemia (levels of 225-238 since age 2 years old); elevated cholesterol, triglyceride, and LDL cholesterol; obesity; asthma; nearsighted; uses glasses; astigmatism; short fourth and fifth metacarpals; fifth finger clinodactyly; tapering fingers; normal IQ; tall; heterozygous for a T>A transversion at nucleotide 806 in the MC4R gene (c.806T>A) resulting in amino acid change p.Ile269Asn; Prader-Willi Syndrome-like symptoms, though there is insufficient clinical evidence for PWS diagnosis; medications include albuterol; treatments include: dietary management.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM23345
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:
Age年龄:10 YR
Gender性别:Female
Cell Type细胞类型: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ20 | MELANOCORTIN 4 RECEPTOR; MC4R
Affected State:Yes
Product:LCL
Gene:MC4R
Mutations突变:806T>A
Ethnicity:
Family:
Relationship:proband
Karyotype:46,XX.arr(1-22,X)x2
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