GM16882 BLOOM SYNDROME; BLM | RECQ PROTEIN-LIKE 3; RECQL3 Skin, Unspecified Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM16882 BLOOM SYNDROME; BLM | RECQ PROTEIN-LIKE 3; RECQL3 Skin, Unspecified 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 # 26; born at term; birth weight = 2,229 grams; at age 1.3 years: weight = 6.3 kg, height = 66 cm; at age 1 year head circumference = 40.8 cm; sun sensitive facial telangiectasias; sacral dimple; elevated chromosome breakage; elevated sister chromosome exchange level; one affected sister; donor is a compound heterozygote: one allele has a 1-bp deletion at nucleotide 3261 of the RECQL3 gene [3261delT] and a second 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, which results in a frameshift and a stop codon.
Category分类：Fibroblast
ID编号:NTCC®-GM16882
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:3 YR
Gender性别:Female
Cell Type细胞类型: BLOOM SYNDROME; BLM | RECQ PROTEIN-LIKE 3; RECQL3
Affected State:Yes
Product:Fibroblast
Gene:RECQL3
Mutations突变:3261delT 6-BP DEL/7-BP INS
Ethnicity:ASHKENAZI
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Dulbecco Modified Eagles Medium (high glucose) 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