GM24352 PRADER-WILLI SYNDROME; PWS B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM24352 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 1 month; symptom onset at birth; decreased fetal motion; spontaneous delivery at 36 weeks gestation; hypotonia; poor feeding and suck at birth; birth weight:2587 g (25%), length: 51 cms (10-25%), head circumference: 32 cms (10-25%); exam at 8.5 months of age: mild plagiocephaly; mild facial asymmetry; small anterior fontanelle; thin, pale skin and hair; blue eyes; upslanting palpebral fissures; small anteverted nares; small mouth with downturned corners; small low-set nipples; adiposity in abdomen and thighs; small hands with faint creases; straight calves and loss of ankle definition; small, puffy, edematous feet; small scrotum; bilateral cryptorchidism; hydronephrosis; hyperlaxity; decreased reflexes; sleep apnea; failure to thrive; developmental delay; rolled over at 7.5 months; fine motor delay; gross motor delay; methylation test for PWS positive; molecular analysis of chromosome 15 polymorphic DNA markers revealed only maternal alleles in the proband consistent with maternal uniparental disomy (UPD); array CGH revealed an additional maternally inherited microdeletion at 13q12.13 spanning approximately 111 kilobases; the deleted interval is contained within the ATP8A2 gene where it overlaps at least 3 exons (OMIM #605870); treatments: growth hormone (starting at age 1), G-tube- age 1 month-5 months; therapies: physical therapy; apnea monitor.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM24352
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 MO
Gender性别:Male
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,XY.arr[hg19] 15q11.1q14(20071672-39159831)x2 hmz,15q23q26.2(71844710-95806702)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