GM03498 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® GM03498 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 #87; stunted growth; minimal freckling over malar area; normal intelligence; excessive sister chromatid exchange in leukocytes and fibroblasts; 4-fold more sensitive to killing by ethyl methanesulphonate compared to control fibroblast; reduced level of DNA ligase I activity; donor subject is a compound heterozygote: one allele has a 6-bp deletion/7-bp insertion [6-bp del/7-bp ins] at nucleotide 2,281 of the open reading frame of the RECQL3 gene that results in a frameshift and a stop codon and a second allele has 1-bp deletion at nucleotide 3233 [3233delT] of the RECQL3 gene resulting in a frameshift and premature termination; same donor as GM04408 B-lymphocyte.
Category分类：Fibroblast
ID编号:NTCC®-GM03498
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:4 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:3233delT 6-BP DEL/7-BP INS
Ethnicity:JEWISH/ENGLISH
Family:720
Relationship:proband
Karyotype:
Tissue Type组织来源:
Complete Growth Medium完全培养基: BioVector® Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids 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