GM23337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® GM23337 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; symptom onset at birth; diagnosis at 2 years of age; decreased/nearly absent fetal movements; hypotonia at birth; round face; upslanting palpebral fissures; short, broad neck; low anterior and posterior hairline; mild acanthosis in neck folds; head tilted forward; kyphosis, scoliosis to lower thoracic and upper lumbar spine with convexity to the left, 20 degree curvature; lumbar lordosis; short stature; reduced muscle bulk; muscle weakness; short fourth and fifth metacarpals; fifth finger clinodactyly; small hands and feet; leg length discrepancy secondary to genu valgus deformity at the left knee; diminished reflexes; shallow sacral dimple; seasonal asthma onset age 2 years; chronic serous otitis; heartburn; right cryptorchidism; obesity onset 6 years of age; arthritis; sticky, dry saliva; sparse axillary hair; tanner stage III; poorly rugated scrotum; skin lesions secondary to skin picking, particularly on limbs; 4 caf锟?au laits lesions; developmental milestones include: smiled before age 1, did not reach for objects until 2, sat at 3-4 years, crawled at 3-4 years, stood independently at 4-5 years, walked at 4-5 years, toilet trained 5-6 years, ran at 6 years, able to says words by 7 years, and 2-word sentences at 11-12 years of age; behavioral problems include: screaming/yelling, throwing objects, foul language, anxiety, aggression, food seeking and hoarding behaviors; sleep study revealed abnormal upper airway resistance syndrome events; mild obstructive sleep apnea (onset 2 years of age); DNA methylation followed by Southern blot analysis (XbaI/NotI hybridized with exon alpha probe) revealed that the paternal band is absent at SNRPN gene; medications include: Norditropin and human chorionic gonadotropin; surgeries include: adenoidectomy, bilateral myringotomy and tube placement at age 11 years; therapies include: attends behavioral program in school starting in grade 10, physical therapy ages 2-4 years, occupational therapy up to age 4; assistive devices: brace for scoliosis for 6 months.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM23337
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:15 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 1q23.3(159780382-159938619)x3,15q11.2q13.1(20224750-26500067)x1,15q14(32269171-32507227)x3
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