GM25262 PRADER-WILLI SYNDROME; PWS B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM25262 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; diagnosed at age 4; symptom onset at birth; decreased fetal movement; born at 37 weeks by C-section for placenta previa; birth weight: 3 pounds 2 ounces; birth length 20 inches; failure to thrive for approximately 1 year; tube fed for first 3 months of life; hypotonic and very weak cry at birth; physical exam at 36 years of age: almond shaped eyes; left eye strabismus; visual impairment; bitemporal narrowing; mildly flat occiput; micrognathia; hypopigmentation of hair; neck is broad and short; prominent gynecomastia; penile length 6 cm, <10th percentile (Tanner stage IV); hypoplastic scrotum; mild scoliosis; osteopenia/osteoporosis; prone to sleep apnea; short 4th metacarpal; hemihypertrophy of the left leg; height is 162.6 cm, 3rd percentile; weight is 101.3 kg, 97th percentile; head circumference is 54.9cm, 40th percentile; BMI is 38.3, greater than 97th percentile; chest circumference 123 cm, >97th percentile; weight gain started at 2.5- 3 years of age, at age 36 Prader Willi phase 3: hyperphagia, always hungry, never feels full, food seeking/hiding; learning disabilities; severe behavioral problems; emotional disturbances; anxiety; obsessive compulsive disorder; nail picking; skin picking until skin bleeds; higher than average pain threshold; speech delay; pervasive developmental delay (sat at 1 year; walked at 3 years); autism; donor subject is positive for PWS 15q11 deletion on FISH; medications/supplements: Risperdal from age 19-35 years, Seroquel, Citracal, vitamin E and multivitamin; surgeries: orchiopexy at age 4 years and strabismus correction; therapies: physical therapy (2 years), speech, and language therapy.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM25262
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:36 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:Basque, Italian, Czech
Family:
Relationship:proband
Karyotype:46,XY.arr[hg19]15q11.1q13.1(20216942-28709280)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