GM25519普瑞德威利综合症； PWS B-淋巴细胞 LCL Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM25519 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 by geneticist at 2 weeks of age; delivered via cesarean section after unremarkable pregnancy; at birth, presented with hypoglycemia, hyperammonemia, and jaundice, in which levels normalized; failure to thrive for 3 months (required tube feeding), but feeding improved around 6-8 months; almond-shaped eyes; strabismus; mild bitemporal narrowing; prominent chin; short 4th and 5th metacarpals; hypotonia; cryptorchidism; micropenis; scoliosis; hyperphonia; skin picking; dry skin; patent ductus arteriosus; severe obstructive sleep apnea; learning disabilities; IQ of 71; increased appetite by 3 years old; developing obesity (BMI is 25.7); hyperphagia (active food seeking and hoarding); milestones include: sat without support at 6 months, walked and said first word at 15 months, toilet-trained at 4 years, and 2-word sentences at 5 years; surgeries include: orchidopexy at 2 years (for undescended testes); ear and tympanostomy tube placement in childhood; tonsillectomy and adenoidectomy; therapies include: physical therapy, occupational therapy, and speech therapy.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM25519
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:19 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:
Family:
Relationship:proband
Karyotype:46,XY.arr[hg19]15q11.2q13.1(23,641,501-28,530,359)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