GM23361 PRADER-WILLI SYNDROME; PWS B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM23361 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：Affected; diagnosed at 1 week of age; symptom onset at birth; decreased fetal movement; delivery by cesarean at 33 weeks for poor biophysical profile; birth weight: 1477 g (40th percentile); birth length: 47 cm (90th percentile); birth head circumference: 28 cm (25th percentile); immature peripheral retinae; hypotonia; ductus arteriosis; blue, almond shaped eyes,strabismus (left exotropia); low placed left eye; epicanthal folds; palpebral fissure length 2.5 cm (25th percentile); anteverted nares; low posterior hairline; mild bitemporal narrowing; Tanner stage III - breast development /Tanner stage II -pubic development; mildly hypoplastic labia majora; soft axillary hair; decreased muscle bulk; syndactyly; short fourth and fifth fingers; tapering of fingers; one caf锟?au-lait lesion on left leg; thick skin excoriations bilaterally in the preauricular region;behavior difficulties beginning at age 3 years; speech delay; pervasive development delay; cheating and food hiding behavior; skin picking, history of choking due to weak swallow/low tone; nocturnal enuresis; gastroparesis/gastroesphogeal reflux; dry sticky saliva; headaches; anxiety. Subject has a small bi-satellited marker chromosome 15 in 18/20 cells; FISH revealed the marker chromosome 15 to be devoid of any clinically significant euchromatic sequences; FISH result: ish dic(15)(rRNA++,D15Z1++,D15Z4++,D15S11-),15q11.2(SNRPNx2,D15S10x2); Baylor microarray analysis (Oligo V8.1): normal; abnormal methylation pattern consistent with Prader-Willi syndrome; treatments include: growth hormone-genotropin, metoclopramide, biotene, two surgeries for strabismus; physical, occupational, speech and sensory integration therapy. _x000D_
Category分类：B-Lymphocyte
ID编号:NTCC®-GM23361
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:10 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:Hungarian, English, German
Family:
Relationship:proband
Karyotype:47,XX,+mar[18]/46,XX[2]. arr 15q11.1q11.2(20016315-22496968)x3,15q14q22.31(39159830-67043207)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