GM02548 BLOOM SYNDROME; BLM | RECQ PROTEIN-LIKE 3; RECQL3 Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM02548 BLOOM SYNDROME; BLM | RECQ PROTEIN-LIKE 3; RECQL3 Cell Line
布卢姆综合症；土地管理 | RECQ 类蛋白 3； RECQL3细胞株
Description描述：Clinically affected; B.S. Registry #71; increased sister chromatid exchange; increased post UV irradiation unscheduled DNA synthesis; donor subject is a compound heterozygote: one allele has a 1-bp insertion at nucleotide 1544 of the RECQL3 gene [1544insA] resulting in a frameshift and premature termination [fs:514+1-X] and a second allele has a C>T transition at nucleotide 2328 of the RECQL3 gene [2328C>T] resulting in a substitution of a termination codon for glutamine at codon 752 [Gln752Ter (Q752X)].
Category分类：Fibroblast
ID编号:NTCC®-GM02548
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: Black/African American
Age年龄:6 YR
Gender性别:Male
Cell Type细胞类型: BLOOM SYNDROME; BLM | RECQ PROTEIN-LIKE 3; RECQL3
Affected State:Yes
Product:Fibroblast
Gene:RECQL3
Mutations突变:1544insA GLN752TER
Ethnicity:
Family:1237
Relationship:proband
Karyotype:
Tissue Type组织来源:
Complete Growth Medium完全培养基: BioVector® Ham's F12 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