GM25333 PRADER-WILLI SYNDROME; PWS B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM25333 PRADER-WILLI SYNDROME; PWS B-Lymphocyte Cell Line
普瑞德威利综合症；普沃斯细胞株
Description描述：Clinically affected; onset of symptoms at birth; diagnosed at 24 days of age by pediatrician; born via cesarean section for breech presentation at 38 weeks gestation (birth weight = 6lbs, low apgar scores, hypotonic, G-tube placement); did not cry until 3 months of age; failure to thrive until 9 months of age; gained weight by 3 years of age; hyperphagia, increased appetite, and actively seeking out food by 5 years of age; at age 16 years old, subject presents with typical craniofacial features of Prader-Willi syndrome, facial asymmetry with right eye placed lower than left eye, right eye smaller than left eye, upslanting almond shaped eyes, bitemporal narrowing around face, narrow nasal bridge, underdeveloped philtrum, clinodactyly of 5th finger, clubbed feet, absent right testicle; dry sticky saliva; obese (BMI=35); mild hypotonia; emotional/behavioral problems; skin picking; developmental milestones: gazed and smiled at 3 months, rolled at 9 months, reached for objects at 18 months, stood at 1.5 years, walked at 2 years, ran at 3 years, said first words at 6 years (unable to make 2 word sentences), and started wearing braces at age 8 years old; at age 10 years old, diagnosed with type 2 diabetes and asthma; surgeries include: orchiopexy (undescended testes) and tonsillectomy/adenoidectomy; medications: metformin; family history: mother diagnosed also with type 2 diabetes (not in repository).
Category分类：B-Lymphocyte
ID编号:NTCC®-GM25333
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:16 YR
Gender性别:Male
Cell Type细胞类型: PRADER-WILLI SYNDROME; PWS
Affected State:Yes
Product:LCL
Gene:
Mutations突变:
Ethnicity:Mexican
Family:
Relationship:proband
Karyotype:46,XY.arr[hg19]15q11.2q13.1(25,127,119-28,709,280)x1,15q13.1q13.2(28,965,219-30,386,399)x1,15q13.2q13.3(30,590,041-32,512,208)x1
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