GM05289布卢姆综合症；土地管理 | RECQ 类蛋白 3； RECQL3 成纤维细胞Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM05289 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 #86; birth weight = 1,920 grams; birth length = 43.5 cm; at age 11 months: weight = 5,290 grams, height = 63.5 cm; small face with hypoplastic malar bone; prominent ears; retruded mandible; high-pitched, squeaky voice; multiple cafe-au-lait spots; depigmented flecks; short stature; facial telangiectasias; photosensitivity; IgA and IgM deficiency; normal serum levels of IgG; increased sister chromatid exchange; chromosome gaps and breaks; donor subject is homozygous for a 1-bp insertion at nucleotide 1544 [1544insA] of the RECQL3 gene resulting in a frameshift and premature termination [fs:514+1-X].
Category分类：Fibroblast
ID编号:NTCC®-GM05289
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: Asian
Age年龄:5 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:1544insA
Ethnicity:JAPANESE
Family:1251
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
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