Name：NTCC? NA15814 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA15814
Size/Quantity數量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 12 YR
Gender性別: 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其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: NBS1
Disease疾病類型:
Mutations突變: 5-BP DEL, NT657-661
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻:

Supplier供應商:
BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net