GM23863 PRADER-WILLI SYNDROME; PWS | TRANSLOCATED CHROMOSOME B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM23863 PRADER-WILLI SYNDROME; PWS | TRANSLOCATED CHROMOSOME B-Lymphocyte Cell Line
普瑞德威利综合症；公共服务系统 |易位染色体细胞株
Description描述：Clinically affected with Prader-Willi syndrome resulting from an unbalanced reciprocal translocation between q arm of chromosome 15 and p arm of chromosome 19; diagnosed at 21 days of age due to hypotonia, poor feeding and mild dysmorphia; delivered at 40 weeks gestation via cesarean section due to non-reassuring fetal heart tracing; birth weight 3.13 kg (25th percentile), height 53 cm; weak cry at birth; required gastrostomy tube for feeding in infancy; dolichocephaly with flattened occiput; bitemporal narrowing; coarse, thick hair with low anterior and posterior hairline; almond shaped eyes; mild strabismus; mild hypotelorism; upslanting palpebral fissures; asymmetrical, low set, and posteriorly angulated ears; mild facial hair; small mouth with flattened short philtrum; cupid锟絪 bow; thick, sticky saliva; widely spaced, small, narrow teeth with hypoplasia of enamel; marked prognathia; lighter skin with areas of hypopigmentation; phallus tanner stage 1; bilateral 5th finger clinodactyly; mild hypoplasia of nails, mild hypotonia; developmental delay requiring special education classes; food seeking/food hiding behaviors; compulsive behaviors; tantrums; anxiety; emotional and cries easily; skin picking; seizures from 1 to 3 years of age; lower pain threshold; decreased vomiting; karyotype result: 45,XY der(19)t (15;19)(q12;13.3); grossly normal MRI at birth: small lateral temporal horns, and small pituitary gland noted; treatments include: genotropin, methylphenydate, thyroid replacement, Biotene, growth hormone; physical, occupational, and speech therapy; family history: paternal cousin with microcephaly and seizures; maternal cousin with hypoglycemia and seizures; consanguinity denied.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM23863
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: Asian, Other
Age年龄:5 YR
Gender性别:Male
Cell Type细胞类型: PRADER-WILLI SYNDROME; PWS | TRANSLOCATED CHROMOSOME
Affected State:Yes
Product:LCL
Gene:
Mutations突变:
Ethnicity:Indian
Family:
Relationship:proband
Karyotype:45,XY,-15,der(19)t(15;19)(q12;p13.3),22ps+.arr 15q11.1q12(20016315-27087592)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