GM15989奈梅亨骨折综合症 |奈梅亨断裂综合症基因； NBS1 皮肤，未特指成纤维细胞Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM15989 NIJMEGEN BREAKAGE SYNDROME | NIJMEGEN BREAKAGE SYNDROME GENE; NBS1 Skin, Unspecified Cell Line
奈梅亨断裂综合症 |奈梅亨断裂综合症基因；国家统计局1细胞株
Description描述：The SV40 Transformed precrisis derivative of GM07166, a skin fibroblast strain established from a child diagnosed initially as having severe combined immunodeficiency and chromosome breakage syndrome (Conley et al, Blood 67:1251-1256,1986) later distinguished as genetically separate from ataxia-telangiectasia (Wegner et al, Clinical Genetics 33:20-32,1988; Jasper et al, Am J Hum Genet 42:66-73,1988), but showing similar x-ray sensitivity to ataxia telangiectasia (Jaspers et al, Cytogenet Cell Genet 49:259-263,1988); in 1998 GM07166 was identified as Nijmegen breakage syndrome carrying the Slavic mutation: deletion of 5bp at nucleotide 657 in exon 6 of the NBS1 gene resulting in premature termination at codon 218 [657-661delACAAA (657del5)] (Vason et al, Cell 93:467-476,1998); the chromosome counts vary from near diploid to near triploid to near tetraploid; the number of structural chromosome aberrations varies from 2 per cell in the near diploids to 17 per cell in the near tetraploids; it is not clear that any of the marker chromosomes recur in any of the cells; massive numbers of aberrations that are not clonal cannot be dealt with by the ISCN; it is to be expected that an SV40 transformant of a cell line from a donor with a chromosome instability syndrome is unstable with respect to both chromosome number and structural integrity
Category分类：Fibroblast
ID编号:NTCC®-GM15989
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:20 YR
Gender性别:Female
Cell Type细胞类型: NIJMEGEN BREAKAGE SYNDROME | NIJMEGEN BREAKAGE SYNDROME GENE; NBS1
Affected State:Yes
Product:Fibroblast
Gene:NBS1
Mutations突变:5-BP DEL, NT657-661
Ethnicity:
Family:2100
Relationship:proband
Karyotype:
Tissue Type组织来源:Skin
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
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