NTCC® NA15814 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA15814

Name：NTCC® NA15814 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA15814
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄: 12 YR
Gender性别: Male
Description描述: NIJMEGEN BREAKAGE SYNDROME | NIJMEGEN BREAKAGE SYNDROME GENE; NBS1
Remarks: Clinically affected; birth weight 2600 grams; birth length 51 cm; head circumference at birth 31 cm; microcephaly; characteristic craniofacial features including receding forehead, prominent midface, receding mandible, upslanting palpebral fissures, and large ears with dysplastic helices; stunted growth; vitiligo; mental retardation; no severe infections; increased chromosome breaks with 32.7% of cells showing structural abnormality; IgG1, IgG2, and IgG4 deficiency; decreased IgA concentration; moderately decreased IgM level; homozygous for del 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 GM15812; mother is GM15810; father is GM15811; unaffected sister is GM15813.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: NBS1
Disease疾病类型:
Mutations突变: 5-BP DEL, NT657-661
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
Origin:
Transformants:
Alias别名:
Images图片:
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