GM22979 CHROMOSOME 1P36 DELETION SYNDROME B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM22979 CHROMOSOME 1P36 DELETION SYNDROME B-Lymphocyte Cell Line
染色体 1P36 缺失综合征细胞株
Description描述：Bitemporal narrowing; sloping forehead; metopic synostosis; microcephaly; blepharophimosis; mild 2-3 toe syndactyly; atrial septal defect (ASD); rectal stenosis; developmental delay-height, weight and head circumference all below 3rd percentile at 32 months; rolled over at 6 months, sat unassisted at 12-13 months, pulled to a stand at 24-26 months and began cruising at 32 months, able to scribble and say a few words at 32 months; subject has a complex rearrangement involving deletion, duplication and triplication of the 1p36 region-Array CGH revealed copy number gains indicative of a ~1.25 Mb terminal triplication followed by an ~4Mb duplication,FISH revealed that RP5-857K21 (the most distal clone on the 1.36 contig) was deleted-parental analysis revealed that this deletion is de novo and not a polymorphic variant, parental chromosomes were normal.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM22979
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:
Age年龄:
Gender性别:Female
Cell Type细胞类型: CHROMOSOME 1P36 DELETION SYNDROME
Affected State:Yes
Product:LCL
Gene:
Mutations突变:
Ethnicity:
Family:2948
Relationship:proband
Karyotype:46,XX,dup(1)(pter->p36.3::p36.3->qter)
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