GM23862 PRADER-WILLI SYNDROME; PWS B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM23862 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 approximately age 12; symptom onset at birth; birth weight: 6 lbs. 10 oz; hypotonic at birth; in NICU for 6 weeks due to failure to thrive; difficulty feeding; gavage feeding until 6 weeks of age; bitemporal narrowing; dolichocephaly with a prominent occiput; hypotelorism; upslanting fissures; almond shaped eyes; small downturned mouth; strabismus; narrow bridge; hypernasal voice; thin upper lip with cupids bow; multiple dental caries; enamel hypoplasia; small hands with tapering fingers; short hypoplastic nails; small feet; pale skin; mild scoliosis; hypoplastic labia minora and clitoris; upper and lower limb muscle bulk decreased; excoriations on face, legs, and arms;_x000D_ weight/height at age 47: 165.6lbs; 60.25 inches; 37.7% body fat; hyperphagia began around age 8-10; hoards/forages and steals food; learning difficulties requiring special education; behavioral problems; at least 3 admissions for severe psychosis; grinds teeth; picks at skin; normal FISH result; abnormal methylation analysis: paternal (unmethylated) fragment NOT detected; maternal uniparental disomy confirmed; treatments include: surgery for strabismus, psychiatric medications: Effexor XR, risperidone TB, trazodone; lives in a group home; works and manages activities of daily living with supervision. _x000D_
Category分类：B-Lymphocyte
ID编号:NTCC®-GM23862
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:49 YR
Gender性别:Female
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,XX.arr 6q12q13(66652097-73120671)x2 hmz,6q15q16.1(90745227-98297832)x2 hmz,15q11.1q14(20071672-37583822)x2 hmz
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