GM15818 NIJMEGEN BREAKAGE SYNDROME | NIJMEGEN BREAKAGE SYNDROME GENE; NBS1 B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM15818 NIJMEGEN BREAKAGE SYNDROME | NIJMEGEN BREAKAGE SYNDROME GENE; NBS1 B-Lymphocyte 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：Clinically affected; birth weight 3,050 grams; birth length 47 cm; head circumference at birth 30 cm; microcephaly; characteristic craniofacial appearance including receding forehead, prominent midface, receding mandible, upslanting palpebral fissures, and large ears with dysplastic helices; mild mental retardation; vitiligo; subtle conjunctival telangiectasia; no severe infections; increased chromosome breaks with 24% of cells with structural abnormality; IgG2 and IgG4 deficiency; homozygous for the deletion of 5 bp at nucleotide 657 in exon 6 of the NBS1 gene resulting in a premature termination at codon 218 [657-661delACAAA (657del5)]; affected brother is GM15819; mother is GM15815; father is GM15816; unaffected sister is GM15817.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM15818
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:6 YR
Gender性别:Female
Cell Type细胞类型: NIJMEGEN BREAKAGE SYNDROME | NIJMEGEN BREAKAGE SYNDROME GENE; NBS1
Affected State:Yes
Product:LCL
Gene:NBS1
Mutations突变:5-BP DEL, NT657-661
Ethnicity:POLISH
Family:1838
Relationship:proband
Karyotype:
Tissue Type组织来源:Blood
Complete Growth Medium完全培养基: BioVector® Roswell Park Memorial Institute Medium 1640 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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