GM24342 PRADER-WILLI SYNDROME; PWS B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM24342 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 5 months; symptom onset at birth; hypotonia; early-onset morbid obesity; height at age 11: 124.1 cm (<3rd percentile); weight is 35.6 kg (50th percentile for age 11); head circumference: 53.5 cm (75th percentile); mild bitemporal narrowing; fine hair; blue eyes; fair skin-lighter complexion than parents; bilateral alternating strabismus (L>R); epicanthic fold; erythema of arms and cheek attributed to eczema; left hand: 14.6 cm, middle finger 5.9 cm (~3rd percentile); short 4th metacarpal; mild syndactyly; speech delay; gross motor delay; pervasive developmental delay; did not walk until age 6 years; Type 1 deletion in 15q11-13 region confirmed by FISH analysis; treatments: Genotropin (growth hormone since age 1), calcium tablets and daily multivitamin (starting age 5), coenzyme Q10 (starting age 7-8); surgeries: 2 for strabismus, therapies: speech language therapy (starting age 4); assistive devices: DAFO braces; prism glasses to correct vision to 20:30.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM24342
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:13 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:NORTHERN EUROPEAN
Family:
Relationship:proband
Karyotype:46,XX,del(15)(q11.2q13.1).arr[hg19] 15q11.2q13.1(22673386-28921041)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